Erkrankung | Gen | OMIM | Dauer in Wochen |
---|---|---|---|
Kearns-Sayre-Syndrom* | |||
ATAD3B | ATAD3B | 2-4 | |
CDK13 | CDK13 | NULL | |
CTBP1 | CTBP1 | NULL | |
PCDH12 | PCDH12 | NULL | |
PCM1 | PCM1 | ||
PTCHD1 | PTCHD1 | NULL | |
RASA1 | RASA1 | ||
RREB1 | RREB1 | NULL | |
SH3TC1 | SH3TC1 | 3-4 | |
SHANK2 | SHANK2 | NULL | |
TANC2 | TANC2 | 2-4 | |
WDR91 | WDR91 | NULL | |
HMGCL | HMGCL | 2-4 | |
3-Methyl-Crotonyl-CoA-Carboxylase-1-Mangel | MCCC1 | MCCC1 | 2-4 |
Aarskog-Syndrom | FGD1 | FGD1 | 2-4 |
Aarskog-Syndrom | FGD1 | FGD1 | 4-6 |
Abetalipoproteinämie | MTP | MTP | 4-6 |
Typ 1B | SLC26A2 | SLC26A2 | 3-4 |
Typ 2 | COL2A1 | COL2A1 | 4-6 |
Typ 2 | COL2A1 | COL2A1 | 4-6 |
Typ 2 | COL2A1 | COL2A1 | 2-3 |
GLI3, KIF7 | GLI3, KIF7 | NULL | |
ACTH-Mangel | TBX19 | TBX19 | 2-4 |
ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ | ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ | 4-8 | |
ADSL | ADSL | 6-10 | |
KSR2 | KSR2 | 2-4 | |
DYRK1B | DYRK1B | 2-4 | |
- | LEP | LEP | 2-4 |
- | LEPR | LEPR | 2-4 |
- | MC3R | MC3R | 2-4 |
- | MC4R | MC4R | 2-4 |
- | PCSK1 | PCSK1 | 2-4 |
- | POMC | POMC | 2-4 |
MLPA | LEPR, MC4R, POMC, LEP, MC2R | LEPR, MC4R, POMC, LEP, MC2R | 2-4 |
NGS | BBS1, BBS10, DYRK1B, KSR2, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, PPARG, SIM1, UCP3 | BBS1,BBS10,DYRK1B,KSR2,LEP,LEPR,MC3R,MC4R,NR0B2,NTRK2,PCSK1,POMC,PPARG,SIM1,UCP3 | 4-6 |
ADPKD | PKD1, PKD2 | PKD1, PKD2 | 2-4 |
Agammaglobulinämie | IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 | IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 | 4-6 |
X-chromosomal 1 | BTK | BTK | 2-4 |
NGS | BCKDHA, BCKDHB, DBT, DLD | BCKDHA, BCKDHB, DBT, DLD | 4-6 |
Typ 1A | BCKDHA | BCKDHA | 2-4 |
Typ 1B | BCKDHB | BCKDHB | 2-4 |
Typ 2 | DBT | DBT | 2-4 |
NGS | IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR | IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR | 4-8 |
- | COL3A1 | COL3A1 | 2-4 |
verschiedene Gene für ALB | verschiedene Gene für ALB | 4-6 | |
GNAS | GNAS | 2-4 | |
Alexander-Syndrom | GFAP | GFAP | 4-6 |
Alkaptonurie | HGD | HGD | 2-4 |
alpha-1-Antitrypsin-Mangel | SERPINA1 | SERPINA1 | 1-2 |
Alpha-Ketoglutarat-Dehydrogenase-Mangel | OGDH | OGDH | 3-5 |
IGFALS | IGFALS | 2-4 | |
SLC34A2 | SLC34A2 | 2-4 | |
Amyloidpolyneuropathie | TTR | TTR | 2-3 |
Amyloidpolyneuropathie | TTR | TTR | 2-3 |
SIGMAR1 | SIGMAR1 | NULL | |
SEPTIN9 | SEPTIN9 | ||
PIP | PIP | NULL | |
Androgeninsensitivitäts-Syndrom | AR | AR | 2-4 |
Androgeninsensitivitäts-Syndrom | AR | AR | 2-4 |
SNRPN, UBE3A | SNRPN,UBE3A | 2-4 | |
4-8 | |||
Sequenzierung des UBE3A-Gens | UBE3A | UBE3A | 2-4 |
Angiotensin 1 konvertierendes Enzym | ACE | ACE | 1-2 |
ANK3 | ANK3 | ||
RSPO4 | RSPO4 | 3-4 | |
ANXA1-Mutation | ANXA1 | ANXA1 | 3-4 |
familiäres thorakales | ACTA2 | ACTA2 | 4-5 |
familiäres thorakales | MYLK | MYLK | 10-11 |
NGS | BCOR, BCORL1, DNMT3A, PIGA, ASXL1 | BCOR, BCORL1, DNMT3A, PIGA, ASXL1 | 2-3 |
Apparenter Mineralocorticoid-Überschuss | HSD11B2 | HSD11B2 | 2-4 |
kongenitale kontrakturale | FBN2 | FBN2 | 5-6 |
Typ 1 | VPS33B, VIPAS39 | VPS33B,VIPAS39 | 4-6 |
Typ 1 | VPS33B | VPS33B | 2-4 |
Typ 2 | VIPAS39 | VIPAS39 | 2-4 |
KARS | KARS | NULL | |
PTPRQ | PTPRQ | 3-6 | |
PKHD1, DZIP1L, PKD1 | PKHD1, DZIP1L, PKD1 | 15-16 | |
PKHD1 | PKHD1 | 2-4 | |
DZIP1L | DZIP1L | NULL | |
PKHD1L1 | PKHD1L1 | 4-6 | |
familiäre isolierte | RYR2 | RYR2 | 2-4 |
der Kindheit | WISP3 | WISP3 | 2-4 |
ARX-assoziierte Erkrankungen | ARX | ARX | 3-4 |
- | MRE11A | MRE11A | 3-5 |
AFG3L2 | AFG3L2 | NULL | |
Typ 1 | FLNB | FLNB | 2-3 |
Typ 1 | FLNB | FLNB | 2-4 |
Typ 1 | FLNB | FLNB | 2-4 |
Typ 2 | SLC26A2 | SLC26A2 | 3-4 |
Typ 3 | FLNB | FLNB | 2-3 |
Typ 3 | FLNB | FLNB | 3-4 |
Typ 3 | FLNB | FLNB | 5-6 |
NLGN1 | NLGN1 | ||
Typ 1 | PITX2 | PITX2 | 2-4 |
NGS | 4-6 | ||
Methylierungsanalyse H19-DMR und KvDMR1 | H19, KCNQ1OT1 | H19,KCNQ1OT1 | 2-4 |
Sequenzanalyse CDKN1C | CDKN1C | CDKN1C | 4-6 |
Sequenzanalyse CDKN1C | CDKN1C | CDKN1C | 2-4 |
Sequenzanalyse NLRP2 | NLRP2 | NLRP2 | 2-4 |
4-8 | |||
- | GP1BA, GP1BB, G9 | GP1BA, GP1BB, G9 | 4-6 |
Typ C | GP9 | GP9 | 2-4 |
bikuspide Aortenklappe | GATA5, NKX2-5, NOTCH1, SMAD6 | GATA5, NKX2-5, NOTCH1, SMAD6 | 4-6 |
Biotinidase-Mangel | BTD | BTD | 2-4 |
BTD | BTD | NULL | |
- | DICER1 | DICER1 | 4-8 |
- | DICER1 | DICER1 | 4-8 |
Bohring-Opitz-Syndrom | ASXL1 | ASXL1 | 2-4 |
FLNB | FLNB | 2-3 | |
FLNB | FLNB | 3-4 | |
FLNB | FLNB | 5-6 | |
IHH | IHH | 2-4 | |
Brown-Vialetto-van Laere-Syndrom | SLC52A3 | SLC52A3 | 2-4 |
Brown-Vialetto-van Laere-Syndrom | SLC52A2 | SLC52A2 | 2-4 |
BARD1 | BARD1 | 2-3 | |
BRIP1 | BRIP1 | 2-3 | |
- | ATM | ATM | 4-5 |
- | ATM | ATM | 4-6 |
- | BARD1 | BARD1 | 4-8 |
- | BRCA1, BRCA2 | BRCA1, BRCA2 | 4-8 |
- | BRCA1 | BRCA1 | 4-6 |
- | BRCA1 | BRCA1 | 2-3 |
- | BRCA2 | BRCA2 | 4-6 |
- | BRCA2 | BRCA2 | 2-3 |
- | BRIP1 | BRIP1 | 4-5 |
- | CHEK2 | CHEK2 | 4-6 |
- | CHEK2 | CHEK2 | 4-6 |
- | CHEK2 | CHEK2 | 4-6 |
- | NBN | NBN | 4-5 |
- | PALB2 | PALB2 | 2-4 |
- | RAD51C | RAD51C | 4-5 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
MLPA | PALB2, RAD50, RAD51D | PALB2, RAD50, RAD51D | 2-4 |
RAD50 | RAD50 | ||
TXNL4A | TXNL4A | 2-4 | |
Butyrylcholinesterase-Mangel | BCHE | BCHE | 4-5 |
CACH-Syndrom | EIF2B1 | EIF2B1 | 3-4 |
CACH-Syndrom | EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 | EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 | 6-8 |
CACH-Syndrom | EIF2B2 | EIF2B2 | 4-5 |
CACH-Syndrom | EIF2B3 | EIF2B3 | 4-5 |
CACH-Syndrom | EIF2B4 | EIF2B4 | 4-5 |
CACH-Syndrom | EIF2B5 | EIF2B5 | 4-5 |
Caffey-Krankheit | COL1A1 | COL1A1 | 4-6 |
Caffey-Krankheit | COL1A1 | COL1A1 | 2-3 |
CAMRQ-Syndrom | ATP8A2 | ATP8A2 | 4-6 |
Canavan-Krankheit | ASPA | ASPA | 4-6 |
Typ 1 | PRKAR1A | PRKAR1A | 4-6 |
DSP | DSP | 2-4 | |
neuronale | 4-8 | ||
Typ 1 | PPT1 | PPT1 | 5-6 |
Typ 1, 8, 2, 6, 3 | PPT1, CLN8, TPP1, CLN6, CLN3 | PPT1, CLN8, TPP1, CLN6, CLN3 | 3-4 |
Typ 2 | TPP1 | TPP1 | 10-12 |
Typ 3 | CLN3 | CLN3 | 10-12 |
Typ 3 | CLN3 | CLN3 | 10-12 |
Typ 5 | CLN5 | CLN5 | NULL |
Typ 6 | CLN6 | CLN6 | 3-4 |
Typ 7 | MFSD8 | MFSD8 | 3-4 |
Typ 8 | CLN8 | CLN8 | 3-4 |
NDRG1 | NDRG1 | NULL | |
ERF | ERF | NULL | |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
rhizomele, Typ 1 | PEX7 | PEX7 | 4-6 |
rhizomele, Typ 2 | GNPAT | GNPAT | 4-6 |
rhizomele, Typ 3 | AGPS | AGPS | 4-6 |
Typ 2 | EBP | EBP | 4-8 |
x-chromosomal, brachytelephalangealer Typ | ARSE | ARSE | 4-8 |
metaphysäre, Typ Schmid | COL10A1 | COL10A1 | 2-3 |
Typ Blomstrand | PTH1R | PTH1R | NULL |
Chorea Huntington | HTT | HTT | 4-5 |
- | NKX2-1 | NKX2-1 | 3-4 |
Chorea-Akanthozytose | VPS13A | VPS13A | 7-9 |
Chorioideremie | CHM | CHM | 4-6 |
CHM | CHM | 4-6 | |
NULL | |||
IgVH | IgVH | 2-3 | |
CHST3-assoziierte Skelettdysplasie | CHST3 | CHST3 | 2-4 |
CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2 | CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2 | 4-6 | |
Typ A | ERCC8 | ERCC8 | 3-4 |
Typ B | ERCC6 | ERCC6 | 3-4 |
RPS6KA3 | RPS6KA3 | NULL | |
SMARCE1 | SMARCE1 | ||
4-6 | |||
VPS13B/COH1 | VPS13B/COH1 | 4-6 | |
VPS13B/COH1 | VPS13B/COH1 | 2-3 | |
RAD21 | RAD21 | NULL | |
4-6 | |||
NGS | AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD | AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD | 4-6 |
Typ 1 | PTEN | PTEN | 3-4 |
Typ 1 | PTEN | PTEN | 2-3 |
Typ 1 | PTEN | PTEN | 2-3 |
Typ 2 | SDHB | SDHB | 3-4 |
Typ 3 | SDHD | SDHD | 3-4 |
Typ 4 | KLLN | KLLN | 3-4 |
Typ 5 | PIK3CA | PIK3CA | 3-4 |
Typ 6 | AKT1 | AKT1 | 3-4 |
Typ 7 | SEC23B | SEC23B | 3-4 |
SDHB | SDHB | 3-4 | |
Crigler-Najjar-Syndrom | UGT1A1 | UGT1A1 | 4-5 |
1 | CRLF1 | CRLF1 | 3-4 |
Crouzon-Syndrom | FGFR2 | FGFR2 | 3-4 |
Crouzon-Syndrom mit Akanthose nigricans | FGFR3 | FGFR3 | 3-4 |
Cumarin/Warfarin-Sensitivität | CYP4F2 | CYP4F2 | 2-3 |
Cumarin/Warfarin-Sensitivität | VKORC1 | VKORC1 | 2-3 |
Cystinose | CTNS | CTNS | 2-4 |
Cystinose | CTNS | CTNS | 2-4 |
Typ 1 | SLC3A1 und SLC7A9 | SLC3A1 und SLC7A9 | 2-4 |
Typ 1 | SLC3A1 | SLC3A1 | 2-4 |
Typ 2 und 3 | SLC7A9 | SLC7A9 | 2-4 |
- | CLCN5 | CLCN5 | 2-4 |
- | OCRL/OCRL1 | OCRL/OCRL1 | 2-4 |
NGS | 4-6 | ||
DSPP | DSPP | NULL | |
DES | DES | 2-4 | |
Diabetes insipidus | AVP, AVPR2, AQP2 | AVP, AVPR2, AQP2 | 4-6 |
Diamond-Blackfan-Anämie | GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26 | GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26 | 4-6 |
Diamond-Blackfan-Anämie | RPS19 | RPS19 | 2-4 |
PHIP | PHIP | NULL | |
Dihydropyrimidin-Dehydrogenase-Mangel | DPYD | DPYD | 1 |
FLNC | FLNC | NULL | |
DNAJC6 | DNAJC6 | NULL | |
autosomal-dominant | GCH1 | GCH1 | 2-3 |
autosomal-dominant | GCH1 | GCH1 | 3-4 |
autosomal-rezessives | TH | TH | 2-4 |
autosomal-rezessives | TH | TH | 2-4 |
Dravet Syndrom | GABRG2 | GABRG2 | 3-4 |
ROBO3 | ROBO3 | 2-4 | |
DYM | DYM | 2-4 | |
- | IKBKAP | IKBKAP | 3-4 |
Typ 6 | THAP1 | THAP1 | 4-5 |
4-8 | |||
Eagle-Barret-Syndrom | CHRM3 | CHRM3 | 5-6 |
EGFR | EGFR | NULL | |
COL5A1 | COL5A1 | NULL | |
EMD | EMD | 2-4 | |
breast cancer | 1 | ||
kongenitale, durch Enteropeptidase-Mangel | TMPRSS15/PRSS7 | TMPRSS15/PRSS7 | 2-4 |
TRRAP | TRRAP | ||
ST7 | ST7 | NULL | |
SUOX | SUOX | 3-5 | |
Enzephalopathie, epileptische frühinfantile | SCN2A | SCN2A | 6-8 |
FGFR1 | FGFR1 | NULL | |
- | COL17A1 | COL17A1 | 6-8 |
- | COL7A1, KRT5 | COL7A1, KRT5 | 2-3 |
dystrophe | COL7A1 | COL7A1 | 6-8 |
junktionale | ITGB4 | ITGB4 | 2-4 |
junktionale | LAMA3 | LAMA3 | 4-5 |
junktionale, Typ nicht-Herlitz | LAMB3 | LAMB3 | 3-4 |
NGS | COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5 | COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5 | 4-8 |
Typ Herlitz | LAMC2 | LAMC2 | 3-4 |
HCN1 | HCN1 | ||
NTRK2 | NTRK2 | 4-6 | |
GRIN2B | GRIN2B | NULL | |
SLC6A1 | SLC6A1 | NULL | |
6 | |||
Typ 1 und 3B | KIF21A | KIF21A | 2-4 |
Typ 2 | PHOX2A | PHOX2A | 2-4 |
Typ 3A | TUBB3 | TUBB3 | 4-5 |
NGS | ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ... | ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, | 4-6 |
Faktor 11-Mangel | F11 | F11 | 4-6 |
Faktor12-Mangel | F12 | F12 | 3-5 |
Faktor 13A1-Mangel | F13A1 | F13A1 | 4-6 |
Faktor V-Mangel | F5 | F5 | 3-4 |
familiäre atypische Mykobakteriose | IFNGR1 | IFNGR1 | NULL |
ADCY5 | ADCY5 | NULL | |
FANCA | FANCA | ||
3 | |||
FA2H | FA2H | 3-4 | |
FGFR3 | FGFR3 | 3-4 | |
Fibula-Aplasie und komplexe Brachydaktylie | GDF5 | GDF5 | 2-4 |
Frank-Ter Haar Syndrom | SH3PXD2B | SH3PXD2B | 6-8 |
AFF2 | AFF2 | NULL | |
ALDOB | ALDOB | ||
Fruktoseintoleranz, hereditär | ALDOB | ALDOB | 2-4 |
SZT2 | SZT2 | NULL | |
1 | |||
juveniler Typ | CTSA | CTSA | 2-4 |
SOX3 | SOX3 | 2-4 | |
Typ 1 | ENPP1 | ENPP1 | 2-4 |
generalisierten pustulösen Psoriasis | IL36RN | IL36RN | 3-4 |
SRY | SRY | 2-4 | |
NR5A1 | NR5A1 | 2-4 | |
- | AMXY | AMXY | 3-4 |
- | SRY | SRY | 2-4 |
Gonadendysgenesie | NR0B1 | NR0B1 | 2-4 |
Gonadendysgenesie | NR0B1 | NR0B1 | 2-4 |
Typ 1A | MYOT | MYOT | 2-4 |
Typ 2A | CAPN3 | CAPN3 | 2-4 |
Typ 2B | DYSF | DYSF | 2-4 |
Typ 2C | SGCG | SGCG | 2-4 |
Typ 2D | SGCA | SGCA | 2-4 |
Typ 2E | SGCB | SGCB | 2-4 |
Typ 2I | FKRP | FKRP | 2-4 |
FKTN | FKTN | 2-4 | |
APOL1 | APOL1 | 3-4 | |
4-6 | |||
Fruktose 1,6 Bisphosphatase-Mangel | FBP1 | FBP1 | 2-4 |
Fruktose 1,6 Bisphosphatase-Mangel | ALDOB, FBP1 | ALDOB, FBP1 | 2-4 |
Glucose-6-Phosphat-Dehydrogenase-Defizienz | G6PD | G6PD | 4-6 |
SLC2A1 | SLC2A1 | 3-4 | |
SLC2A1 | SLC2A1 | 3-4 | |
GSTM1, GSTP1, GSTT1 | GSTM1, GSTP1, GSTT1 | 2-3 | |
Typ 0 | GYS2 | GYS2 | 2-4 |
Typ 1B/1C | SLC37A4/G6PT1 | SLC37A4/G6PT1 | 2-4 |
Typ 2 | GAA | GAA | 2-4 |
Typ 2 | GAA | GAA | 2-4 |
Typ 3b | AGL | AGL | 2-4 |
Typ 4 | GBE1 | GBE1 | 2-4 |
Typ 5 | PYGM | PYGM | 2-4 |
Typ 6 | PYGL | PYGL | 2-4 |
Typ 7 | PFKM | PFKM | 2-4 |
Typ 9A | PHKA2 | PHKA2 | 2-4 |
Typ 9B | PHKB | PHKB | 2-4 |
NGS | AGL, FBP1, G6PC, GAA, GBE1, PHKA2, PHKB, PHKG2, PYGM, SLC2A2, SLC37A4, ALDOA, ENO3, EPM2A, FBP2, GYG1, GYG2, GYS1, GYS2, LAMP2, LDHA, LDHB, NHLRC1, PFKL, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKG1, PRKAG2, PRKAG3, PYGL | AGL,FBP1,G6PC,GAA,GBE1,PHKA2,PHKB,PHKG2,PYGM,SLC2A2,SLC37A4,ALDOA,ENO3,EPM2A,FBP2,GYG1,GYG2,GYS1,GYS | 4-8 |
Typ 11 | SLC2A2 | SLC2A2 | 2-4 |
Typ 1A | G6PC1/G6PC | G6PC1/G6PC | 2-4 |
Typ 1-3 | GLB1 | GLB1 | 14-16 |
PTCH1 | PTCH1 | ||
Gray-platelet-Syndrom | NBEAL2 | NBEAL2 | 8-10 |
GLI3 | GLI3 | 2-3 | |
GRIN1 | GRIN1 | NULL | |
X-Chromosomal | POU3F4 | POU3F4 | 2-4 |
- | BRAF | BRAF | 2 |
NGS | BRAF, KLF2, CDKN1B | BRAF, KLF2, CDKN1B | 2 |
GATA3 | GATA3 | NULL | |
GATA3 | GATA3 | NULL | |
HECW2 | HECW2 | NULL | |
Prognosemarker | IL-28B | IL-28B | 2-3 |
NGS | ABCB11, AGL, APC, CDKN2A, FAH, G6PC, HMBS, PPOX, PRKAR1A, SPRTN, BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2 | ABCB11, AGL, APC, CDKN2A, FAH, G6PC, HMBS, PPOX, PRKAR1A, SPRTN, BRCA2, BRIP1, FANCA, FANCB, FANCC, | 4-8 |
PMP22 | PMP22 | 3-4 | |
PMP22 | PMP22 | 3-4 | |
DNMT1 | DNMT1 | NULL | |
KCNN4, PIEZO1, SLC4A1, RHAG, RHCE, RHD, ABCB6 und SLC2A1 | KCNN4, PIEZO1, SLC4A1, RHAG, RHCE, RHD, ABCB6 und SLC2A1 | ||
verschiedene Gene für HPS | verschiedene Gene für HPS | 4-8 | |
Typ 1 | HPS1 | HPS1 | 2-4 |
Typ 3 | HPS3 | HPS3 | 2-4 |
Typ 5 | HPS5 | HPS5 | 2-4 |
Typ 6 | HPS6 | HPS6 | 2-4 |
Typ 8 | BLOC1S3 | BLOC1S3 | 2-4 |
MED13L | MED13L | NULL | |
verschiedene Gene | verschiedene Gene | NULL | |
- | EDN3 | EDN3 | 3-4 |
- | EDNRB | EDNRB | 3-4 |
Histaminintoleranz | ABP1 | ABP1 | 4-6 |
Histaminintoleranz | HNMT | HNMT | 4-5 |
HIV-1-Wirtsresistenz | CCR5 | CCR5 | 2-3 |
4-6 | |||
Holoprosenzephalie | GLI2 | GLI2 | 7-8 |
Holoprosenzephalie | PTCH1 | PTCH1 | 4-6 |
Holoprosenzephalie | SHH | SHH | 4-6 |
Holoprosenzephalie | SIX3 | SIX3 | 8-9 |
Holoprosenzephalie | TGIF | TGIF | 7-8 |
Holoprosenzephalie | ZIC2 | ZIC2 | 8-10 |
Holt-Oram-Syndrom | TBX5 | TBX5 | 2-4 |
Holt-Oram-Syndrom | TBX5 | TBX5 | 2-4 |
Homocysteinämie | CBS | CBS | 4-6 |
- | DCN | DCN | 2-4 |
- | SLC4A11 | SLC4A11 | 2-4 |
Hornhautdystrophie | ZEB1 | ZEB1 | 2-4 |
Hutchinson-Gilford-Syndrom | LMNA | LMNA | 3-4 |
KYNU | KYNU | 5-6 | |
X-chromosomal | L1CAM | L1CAM | 3-5 |
Hyper-IgE-Syndrom | DOCK8 | DOCK8 | 4-8 |
Hyper-IgE-Syndrom | DOCK8 | DOCK8 | 4-8 |
Hyper-IgE-Syndrom | STAT3 | STAT3 | 4-8 |
Hyper-IgE-Syndrom | TYK2 | TYK2 | 4-8 |
NGS | DOCK8, STAT3, TYK2 | DOCK8, STAT3, TYK2 | 4-8 |
Hypereosinophilie-Syndrom | FIP1L1, PDGFRA | FIP1L1, PDGFRA | 3-4 |
SCN4A | SCN4A | 3-5 | |
CASR | CASR | 2-4 | |
Typ 2 | GNA11 | GNA11 | 2-4 |
Typ 3 | AP2S1 | AP2S1 | 2-4 |
Typ1 | CASR | CASR | 2-4 |
Hyperlipoproteinämie | LPL | LPL | 2-4 |
Typ 3 | APOE | APOE | 2-3 |
Typ 1 | AGXT | AGXT | 2-4 |
Typ 1 | AGXT | AGXT | 2-4 |
Typ 2 | GRHPR | GRHPR | 2-4 |
Typ 2 | GRHPR | GRHPR | 2-4 |
Typ 3 | HOGA1/DHDPSL | HOGA1/DHDPSL | 2-4 |
SLC26A1 | SLC26A1 | 2-4 | |
4-6 | |||
TRPV6 | TRPV6 | 2-4 | |
PIGV | PIGV | NULL | |
Typ 2 | ALDH4A1 | ALDH4A1 | 3-4 |
4-6 | |||
Hypoalphalipoproteinämie | LCAT | LCAT | 2-4 |
Hypochondrogenesie | COL2A1 | COL2A1 | 4-6 |
Hypochondrogenesie | COL2A1 | COL2A1 | 4-6 |
Hypochondrogenesie | COL2A1 | COL2A1 | 2-3 |
AKT2 | AKT2 | 2-4 | |
ACAT1, CA5A, FBP1, G6PC, GYS1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, PC, PCK1, PCK2, PYGL, SLC16A1 | ACAT1, CA5A, FBP1, G6PC, GYS1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, PC, PCK1, PCK2, PYGL, SLC16A1 | ||
NGS | 4-8 | ||
NGS | 4-6 | ||
kongenitale Katarakt | FAM126A | FAM126A | 4-6 |
SLC34A3 | SLC34A3 | 2-4 | |
SLC34A1 | SLC34A1 | 2-4 | |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
NGS | ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3 | ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3 | 4-8 |
Typ 1 | LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR | LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR | 2-4 |
Typ 1 | POU1F1 | POU1F1 | 2-4 |
Typ 3 | LHX3 | LHX3 | 2-4 |
Typ 4 | LHX4 | LHX4 | 2-4 |
Typ 5 | HESX1 | HESX1 | 2-4 |
Typ 2 | SLC38A8 | SLC38A8 | 3-4 |
hypoplastisches Linksherz-Syndrom | NKX2-5 | NKX2-5 | 2-4 |
Typ 1 | SLC22A12 | SLC22A12 | 2-4 |
Typ 2 | SLC2A9 | SLC2A9 | 2-4 |
MLPA | 2-4 | ||
NGS | HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6 | HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6 | 4-8 |
Typ 1 | HFE | HFE | 4-8 |
Typ 2A | HFE2/HJV | HFE2/HJV | 4-8 |
Typ 2B | HAMP | HAMP | 4-8 |
Typ 3 | TFR2 | TFR2 | 4-8 |
Typ 4 | SLC40A1 | SLC40A1 | 2-4 |
Typ 5 | BMP6 | BMP6 | 4-8 |
Hämophilie B | F9 | F9 | 4-6 |
NGS | ABCA12, ALOX12B, ALOXE3, CYP4F22, KRT1, KRT10, LIPN, NIPAL4, STS, TGM1 und weitere | ABCA12, ALOX12B, ALOXE3, CYP4F22, KRT1, KRT10, LIPN, NIPAL4, STS, TGM1 und weitere | 4-8 |
X-chromosomale | STS | STS | 5-8 |
X-chromosomale | STS | STS | 5-8 |
ADCY10 | ADCY10 | 2-4 | |
IGF1R, IGFBP3, IGFALS | IGF1R, IGFBP3, IGFALS | 2-4 | |
IL3RA | IL3RA | 2-4 | |
kombinierter schwerer | JAK3 | JAK3 | 4-6 |
kombinierter schwerer | CD247, CD3D/E, CD45, CORO1A, DCLRE1C , IL2RG, IL7R | CD247, CD3D/E, CD45, CORO1A, DCLRE1C ,IL2RG, IL7R | 4-8 |
kombinierter schwerer | ZAP70 | ZAP70 | 6-8 |
Immundefizienz | IRAK4 | IRAK4 | 6-8 |
Immunglobulin A (IgA)-Mangel | TNFRSF13B | TNFRSF13B | 4-6 |
ITGA2 | ITGA2 | 2-3 | |
DEAF1 | DEAF1 | NULL | |
CNKSR2 | CNKSR2 | NULL | |
SETD5 | SETD5 | NULL | |
Interleukin-1 Rezeptor-Antagonist-Mangel | IL1RN | IL1RN | 3-5 |
NULL | |||
Isovalerianazidämie | IVD | IVD | 5-6 |
CACNB4 | CACNB4 | 34-35 | |
CACNG4 | CACNG4 | NULL | |
- | FGFR1, PROKR2, PROK2, KISS1R, NELF, GNRH1, GNRHR | FGFR1, PROKR2, PROK2, KISS1R, NELF, GNRH1, GNRHR | 3-4 |
- | KISS1R | KISS1R | 2-4 |
- | TACR3 | TACR3 | 2-4 |
NGS | 4-8 | ||
Typ 1 | KAL1/ANOS1 | KAL1/ANOS1 | 2-4 |
Typ 1 | KAL1/ANOS1 | KAL1/ANOS1 | 2-4 |
Typ 2 | FGFR1 | FGFR1 | 2-4 |
Typ 3 | PROKR2 | PROKR2 | 2-4 |
Typ 5 | CHD7 | CHD7 | 2-4 |
Typ 5 | CHD7 | CHD7 | 2-4 |
Typ 6 | FGF8 | FGF8 | 2-4 |
TNNI3 | TNNI3 | 2-4 | |
dilatativ / hypertrophe | NEXN | NEXN | 2-4 |
dilatative | ACTN2 | ACTN2 | NULL |
dilatative | TNNT2 | TNNT2 | 2-4 |
dilatative | MYH7 | MYH7 | 2-4 |
dilatative oder hypertrophe | MYBPC3 | MYBPC3 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | DSG2 | DSG2 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | PKP2 | PKP2 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | PKP2 | PKP2 | 2-4 |
hypertrophe | TPM1 | TPM1 | NULL |
hypertrophe | RBM20 | RBM20 | 2-4 |
LDB3 | LDB3 | NULL | |
MYH6 | MYH6 | 2-4 | |
MYOM1 | MYOM1 | 2-4 | |
PLN | PLN | NULL | |
SLC25A3 | SLC25A3 | 3-4 | |
NGS | ACTC1, ACTN2, ALPK3, ANKRD1, CALR3, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, SLC25A4, SOS1, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL | ACTC1, ACTN2, ALPK3, ANKRD1, CALR3, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, M | 4-8 |
LMNA | LMNA | 2-4 | |
TTN | TTN | NULL | |
NHS | NHS | 2-4 | |
Typ 17 | CRYBB1 | CRYBB1 | 2-4 |
Typ 2 | CRYGC | CRYGC | 2-4 |
Typ 3 | CRYBB2 | CRYBB2 | 2-4 |
Typ 31 | CHMP4B | CHMP4B | 2-4 |
Typ 4 | CRYGD | CRYGD | 2-4 |
Typ 9 | CRYAA | CRYAA | 2-4 |
Kaudale Regressions-Sequenz | VANGL1 | VANGL1 | 5-6 |
Kearns-Sayre-Syndrom | MTTL2 | MTTL2 | 3-4 |
NGS | ACADM, ACADVL, HADHA, HADHB, HMGCL, HMGCS2 | ACADM,ACADVL,HADHA,HADHB,HMGCL,HMGCS2 | 4-8 |
3-Hydroxyisobutyrat-Dehydrogenase-Mangel | HIBADH | HIBADH | 2-4 |
NGS | ACAT1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, SLC16A1 | ACAT1,GYS2,HIBADH,HMGCL,HSD17B10,OXCT1,SLC16A1 | 2-4 |
Ketothiolase-Mangel | ACAT1 | ACAT1 | 2-4 |
MGP | MGP | 4-6 | |
ACAN, FGFR3, GH1, GHR, GHRHR, GHSR, IGF1, IGF1R, IGFALS, IHH, NPR2, SHOX, STAT5B | ACAN,FGFR3,GH1,GHR,GHRHR,GHSR,IGF1,IGF1R,IGFALS,IHH,NPR2,SHOX,STAT5B | 4-6 | |
ACAN, COL10A1, COL2A1, COMP, FGFR3, IHH, NPR2, PTH1R, PTHLH, ROR2, SHOX | ACAN,COL10A1,COL2A1,COMP,FGFR3,IHH,NPR2,PTH1R,PTHLH,ROR2,SHOX | 4-6 | |
BRAF, CREBBP, CUL7, DHCR7, HRAS, NIPBL, PTPN11 | BRAF,CREBBP,CUL7,DHCR7,HRAS,NIPBL,PTPN11 | 4-6 | |
diastrophischer | SLC26A2 | SLC26A2 | 2-4 |
Typ 1 | GDF6 | GDF6 | 8-20 |
Typ 3 | GDF3 | GDF3 | 8-20 |
ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, TET2, TP53, U2AF1 | ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, T | 2 | |
ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, TET2, TP53, U2AF1 | ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, T | 2 | |
NGS | RCA2 (FANCD1), BRIP1 (FANCJ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, MPL, SBDS... | RCA2 (FANCD1), BRIP1 (FANCJ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, | 4-8 |
POLE1 | POLE1 | 4-6 | |
hereditäres nicht polypöses | PMS2 | PMS2 | 4-6 |
hereditäres nicht polypöses | NULL | ||
Immunhistochemie (MLH1, MSH2, MSH6, PMS2) | 3-6 | ||
NGS | MLH1, MSH2, MSH6, PMS2, EPCAM | MLH1, MSH2, MSH6, PMS2, EPCAM | 4-8 |
CARS2 | CARS2 | ||
kombinierter Faktor 5 und 8-Mangel | LMAN1 | LMAN1 | 4-6 |
verschiedene Gene für CFEOM | verschiedene Gene für CFEOM | 4-8 | |
kongenitalse malabsorptive Diarrhoe | NEUROG3 | NEUROG3 | 4-8 |
1-2 | |||
LARGE assoziierte Erkrankungen | LARGE | LARGE | 5-6 |
amyotrophe | FUS | FUS | 8 |
amyotrophe | CHCHD10 | CHCHD10 | 2-4 |
amyotrophe | KIF5A | KIF5A | 3-4 |
amyotrophe | SOD1 | SOD1 | 3-4 |
amyotrophe 14 | VCP | VCP | 2-6 |
amytrophe | ALS2, ANG, ATXN2, DAO, FIG4, FUS, KIF5A, OPTN, PFN1, PON1, ... | ALS2, ANG, ATXN2,DAO, FIG4, FUS, KIF5A, OPTN, PFN1, PON1, ... | 4-8 |
Primäre | PLS | PLS | NULL |
Typ 2 | ALS2 | ALS2 | 1-9 / 100 000 |
- | DTHD1 | DTHD1 | 3-4 |
Typ 1 | GUCY2D | GUCY2D | 4-5 |
Typ 10 | CEP290 | CEP290 | 3-5 |
Typ 11 | IMPDH1 | IMPDH1 | 3-4 |
Typ 12 | RD3 | RD3 | 3-4 |
Typ 13 | RDH12 | RDH12 | 3-4 |
Typ 14 | LRAT | LRAT | 3-4 |
Typ 15 | TULP1 | TULP1 | 3-4 |
Typ 16 | KCNJ13 | KCNJ13 | 3-4 |
Typ 2 | RPE65 | RPE65 | 3-4 |
Typ 3 | SPATA7 | SPATA7 | 3-4 |
Typ 4 | AIPL1 | AIPL1 | 4-6 |
Typ 5 | LCA5 | LCA5 | 3-4 |
Typ 6 | RPGRIP1 | RPGRIP1 | 3-4 |
Typ 6 | RPGRIP1 | RPGRIP1 | 3-4 |
Typ 7 | CRX | CRX | 3-4 |
Typ 7 | GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26) | GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26) | 3-4 |
Typ 8 | CRB1 | CRB1 | 4-5 |
Typ 8 | AIPL1, CRB1, CRX, LCA5, RPE65 | AIPL1, CRB1, CRX, LCA5, RPE65 | 2-4 |
Typ 9 | NMNAT1 | NMNAT1 | 3-4 |
Lebersche Hereditäre Optikusneuropathie | MT-ND1, MT-ND4, MT-ND6 | MT-ND1, MT-ND4, MT-ND6 | 2-4 |
Leigh-Syndrom | SURF1 | SURF1 | 2-4 |
COL4A6 | COL4A6 | 2-4 | |
EL | EL | ||
GABRB3 | GABRB3 | 2-4 | |
Leukenzephalopathie | 4-8 | ||
megalenzephalen, mit subkortikalen Zysten | HEPACAM | HEPACAM | 8-20 |
megalenzephalen, mit subkortikalen Zysten | MLC1 | MLC1 | 8-20 |
mit axonalen Sphäroiden und pigmentierter Glia | CSF1R | CSF1R | 8-20 |
mit Hirnstamm- und Rückenmark | DARS2 | DARS2 | 8-12 |
zystische, ohne Megalenzephalie | RNASET2 | RNASET2 | 8-20 |
CEBPA, cKIT | CEBPA, cKIT | NULL | |
GATA2 | GATA2 | NULL | |
qualitativ | PML-RARA | PML-RARA | 1 |
quantitativ | PML-RARA | PML-RARA | 1-2 |
NGS | ASXL1, CALR, CBL, CSF3R, ETNK1, EZH2, JAK2, KRAS, MPL, NRAS, RUNX1, SETBP1, SRSF2, TET2, U2AF1 | ASXL1, CALR, CBL, CSF3R, ETNK1, EZH2, JAK2, KRAS, MPL, NRAS, RUNX1, SETBP1, SRSF2, TET2, U2AF1 | 2 |
- | DNMT3A | DNMT3A | 2 |
- | NRAS | NRAS | 2 |
NGS | JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53 | JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53 | 2 |
- | TP53 | TP53 | 2 |
LH-Resistenz | LHCGR | LHCGR | 2-4 |
Typ 1 | LIS1/PAFAH1B1 | LIS1/PAFAH1B1 | 4-5 |
Typ 2 | RELN | RELN | 8-12 |
X-chromosomal | DCX | DCX | 8-9 |
TUBA1A | TUBA1A | NULL | |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR2 | TGFBR2 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR2 | TGFBR2 | 3-5 |
LRP5 | LRP5 | 2-3 | |
- | IGH/BCL2 | IGH/BCL2 | 2 |
NGS | BCL2, CREBBP, EP300, EZH2, KMT2D (MLL2), MEF2B, TP53 | BCL2, CREBBP, EP300, EZH2, KMT2D (MLL2), MEF2B, TP53 | 2 |
NGS | DNMT3A, IDH2, RHOA, STAT3, TET2, TP53 | DNMT3A, IDH2, RHOA, STAT3, TET2, TP53 | 2 |
lysinurische Proteinintoleranz | SLC7A7 | SLC7A7 | 2-4 |
- | CDH1 | CDH1 | 4-6 |
Majeed-Syndrom | LPIN2 | LPIN2 | 4-6 |
NULL | |||
Makuladystrophie, vitelliforme | BEST1 | BEST1 | 3-4 |
PLCB1 | PLCB1 | NULL | |
Marfan-Syndrom | FBN1 | FBN1 | 2-4 |
Marfan-Syndrom | FBN1 | FBN1 | 2-4 |
NGS | FBN1, TGFBR1, TGFBR2 | FBN1,TGFBR1,TGFBR2 | 4-6 |
NGS | ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1 | ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1 | 2 |
GNAS | GNAS | 4-6 | |
Medium-chain-Acyl-CoA-Dehydrogenase-Mangel | ACADM | ACADM | 2-4 |
Medium-chain-Acyl-CoA-Dehydrogenase-Mangel | ACADM | ACADM | 2-4 |
AKT3 | AKT3 | NULL | |
4 | CDT1 | CDT1 | NULL |
Meier-Gorlin-Syndrom 1 | ORC1 | ORC1 | 7-8 |
MELAS-Syndrom | MT-TL1 | MT-TL1 | 2-4 |
FLNA | FLNA | 4-6 | |
FLNA | FLNA | 6-8 | |
ATRX | ATRX | NULL | |
AUTS2 | AUTS2 | NULL | |
4-8 | |||
TAOK2 | TAOK2 | ||
TRIO | TRIO | NULL | |
MERRF-Syndrom | MTTK | MTTK | 2-4 |
metachromatische Leukodystrophie | ARSA | ARSA | 4-6 |
Typ Schmid | COL10A1 | COL10A1 | 3-4 |
HIBCH | HIBCH | 2-4 | |
Methionin-Adenosyltransferase-Mangel | MAT1A | MAT1A | 6-8 |
Methylmalonat-Semialdehyd-Dehydrogenase-Mangel | ALDH6A1 | ALDH6A1 | 6-7 |
cbl C | MMACHC | MMACHC | 2-4 |
cbl C | MMACHC | MMACHC | 2-4 |
cbl D | MMADHC | MMADHC | 2-4 |
Methylmalonyl-CoA-Mutase-Mangel | MMUT | MMUT | 6-8 |
Sequenzanalyse MMUT | MMUT | MMUT | 2-4 |
familiäre hemiplegische | ATP1A2, CACNA1A, NOTCH3, SCN1A | ATP1A2, CACNA1A, NOTCH3, SCN1A | 4-8 |
familiäre hemiplegische 1 | CACNA1A | CACNA1A | 4-6 |
familiäre hemiplegische 2 | ATP1A2 | ATP1A2 | 8-10 |
familiäre hemiplegische 3 | SCN1A | SCN1A | 4-5 |
Mikrolissenzephalie | NDE1 | NDE1 | NULL |
SLC25A22 | SLC25A22 | 2-4 | |
LIG4 | LIG4 | 4-6 | |
4-8 | |||
- | CEP63 | CEP63 | 3-5 |
- | IER3IP1 | IER3IP1 | 3-5 |
- | KIF11 | KIF11 | 3-5 |
- | MYO16 | MYO16 | 3-5 |
- | PCNT | PCNT | 3-5 |
- | RBBP8 | RBBP8 | 4-6 |
- | RTTN | RTTN | 3-5 |
- | SLC25A19 | SLC25A19 | 3-5 |
- | TRAPPC9 | TRAPPC9 | 3-5 |
- | TUBB2B | TUBB2B | 3-5 |
MCPH1 | MCPH1 | MCPH1 | 3-5 |
MCPH2 | WDR62 | WDR62 | 3-5 |
MCPH3 | CDK5RAP2 | CDK5RAP2 | 3-5 |
MCPH4 | CASC5 | CASC5 | 3-5 |
MCPH4, MCPH9 | CEP152 | CEP152 | 3-5 |
MCPH5 | ASPM | ASPM | 3-5 |
MCPH6 | CENPJ | CENPJ | 3-5 |
MCPH8 | CEP135 | CEP135 | 5-7 |
Seckel syndrome | ATR | ATR | 3-5 |
- | PLK4 | PLK4 | 2-4 |
LMNB1 | LMNB1 | ||
SPATA5 | SPATA5 | NULL | |
QARS | QARS | NULL | |
mitochondrialer trifunktionaler Protein-Mangel | HADHB | HADHB | 4-8 |
FBXL4 | FBXL4 | NULL | |
MNGIE-Syndrom | TYMP, POLG, MGME1, RRM2B | TYMP, POLG, MGME1, RRM2B | 4-6 |
MNGIE-Syndrom | TYMP | TYMP | 2-4 |
4-8 | |||
Typ A | MOCS1 | MOCS1 | 9-10 |
Typ B | MOCS2 | MOCS2 | 9-10 |
Typ C | GPHN | GPHN | 4-8 |
KRT86 | KRT86 | 4-8 | |
Morbus Darier | ATP2A2 | ATP2A2 | 4-6 |
Morbus Krabbe | GALC | GALC | 6-10 |
NGS | ACVRL1, ENG, SMAD4, GDF2 | ACVRL1, ENG, SMAD4, GDF2 | 4-6 |
Typ 1 | ENG | ENG | 4-6 |
Typ 1,2 | ENG, ACVRL1 | ENG, ACVRL1 | 2-3 |
Typ 2 | ACVRL1 | ACVRL1 | 4-6 |
Typ 5 | GDF2 | GDF2 | 4-6 |
Morbus Wilson | ATP7B | ATP7B | 2-4 |
Morbus Wilson | ATP7B | ATP7B | 2-4 |
NGS | ATP7B | ATP7B | 2-4 |
NULL | |||
Mowat-Wilson-Syndrom | ZEB2/ZFHX1B | ZEB2/ZFHX1B | 5-6 |
Muenke-Syndrom | FGFR3 | FGFR3 | 1-2 |
multi-drug-Resistenz | ABCB1/MDR1 | ABCB1/MDR1 | 2-3 |
PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS | PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS | 2-4 | |
NGS | BRAF, DIS3, FAM46C, KRAS, NRAS, TP53 | BRAF, DIS3, FAM46C, KRAS, NRAS, TP53 | 2 |
multiples Pterygium-Syndrom | CHRNG | CHRNG | 4-6 |
Muskel-Augen-Gehirn-Krankheit | POMGNT1 | POMGNT1 | 5-6 |
RAPSN | RAPSN | NULL | |
kongenitales | CHRND | CHRND | 5-6 |
MUSK | MUSK | NULL | |
NGS | ASXL1, CBL, EZH2, ETNK1, IDH2, JAK2, KIT, SETBP1, SF3B1, TET2 | ASXL1,CBL, EZH2, ETNK1, IDH2, JAK2, KIT, SETBP1, SF3B1, TET2 | 2 |
- | AMH | AMH | 2-3 |
- | AMHR2 | AMHR2 | 2-3 |
- | AMH, AMHR2 | AMH,AMHR2 | 3-4 |
NGS | PDGFRB, NOTCH3 | PDGFRB, NOTCH3 | 4-8 |
rekurrente, genetisch bedingte | LPIN1 | LPIN1 | 2-4 |
juvenile | CACNA1A | CACNA1A | 34-35 |
juvenile | CACNA2D2 | CACNA2D2 | 8-12 |
CLCN2 | CLCN2 | NULL | |
SGCA, SGCB, SGCD, SGCG und FKRP | SGCA, SGCB, SGCD, SGCG und FKRP | 4-6 | |
4-6 | |||
4-6 | |||
SGCA, SGCB, SGCD, SGCG und FKRP | SGCA, SGCB, SGCD, SGCG und FKRP | ||
SEPN1 | SEPN1 | 3-4 | |
distale | ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP | ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM | 4-8 |
metabolische | AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere | AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere | 4-8 |
NGS | verschiedene Gene für MYOP | verschiedene Gene für MYOP | 4-8 |
Becker, Thomsen | CLCN1 | CLCN1 | 2-4 |
Becker, Thomsen | CLCN1 | CLCN1 | 2-4 |
X-linked | MTM1 | MTM1 | 3-4 |
N-Acetylglutamat-Synthetase-Mangel | NAGS | NAGS | 2-4 |
N-Acetyltransferase 2-Mangel | NAT2 | NAT2 | 2-3 |
NACC1 | NACC1 | NULL | |
ANKLE2 | ANKLE2 | NULL | |
DCHS2 | DCHS2 | NULL | |
DNAJB9 | DNAJB9 | NULL | |
NRK | NRK | NULL | |
PIP5K1A | PIP5K1A | NULL | |
PLEKHG4 | PLEKHG4 | NULL | |
PRDM9 | PRDM9 | NULL | |
SRSF5 | SRSF5 | NULL | |
TOE1 | TOE1 | NULL | |
DNAJC3 | DNAJC3 | NULL | |
NGS | diverse Gene | diverse Gene | 4-8 |
autosomal dominant 2 | PDE6B | PDE6B | 4-6 |
Autosomal dominant, Typ 1 | RHO | RHO | 4-6 |
Autosomal dominant, Typ 3 | GNAT1 | GNAT1 | 4-6 |
autosomal-rezessiv, Typ 1B | GRM6 | GRM6 | 4-5 |
autosomal-rezessiv, Typ 1C | TRPM1 | TRPM1 | 4-5 |
autosomal-rezessiv, Typ 1E | GPR179 | GPR179 | 4-5 |
autosomal-rezessiv, Typ 1F | LRIT3 | LRIT3 | 3-4 |
autosomal-rezessiv, Typ 2B | CABP4 | CABP4 | 4-5 |
Typ 1D | SLC24A1 | SLC24A1 | 3-4 |
X-chromosomal, Typ 1A | NYX | NYX | 3-4 |
X-chromosomal, Typ 2A | CACNA1F | CACNA1F | 4-5 |
Nagel-Patella-Syndrom | LMX1B | LMX1B | 3-4 |
Nagel-Patella-Syndrom | LMX1B | LMX1B | 2-3 |
NULL | |||
Natrium-Diarrhoe, kongenitale | SPINT2 | SPINT2 | NULL |
- | KLHL41 | KLHL41 | 4-6 |
Typ Amish | TNNT1 | TNNT1 | 4-5 |
NPHP1 | NPHP1 | NPHP1 | 2-5 |
NPHP1 | NPHP1 | NPHP1 | 2-3 |
Netherton-Syndrom | SPINK5 | SPINK5 | 4-5 |
APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR | APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR | 4-6 | |
4-8 | |||
Typ 2 | 4-8 | ||
GNAO1 | GNAO1 | ||
Typ Fiskerstrand | ABHD12 | ABHD12 | 3-4 |
kongenital schwere 3 | HAX1 | HAX1 | 4-6 |
kongenital schwere 6 | JAGN1 | JAGN1 | 4-8 |
kongenitale schwere 1 | ELANE/ELA2 | ELANE/ELA2 | 2-4 |
somatische Mutationen | CSF3R, TP53 | CSF3R, TP53 | 2 |
X-chromosomal | WAS | WAS | 4-8 |
NGS | CSF3R, SETBP1, ASXL1 | CSF3R, SETBP1, ASXL1 | 2 |
NFE2L3 | NFE2L3 | NULL | |
NULL | |||
1-2 | |||
nicht-ketotische Hyperglycinämie | GCSH | GCSH | 3-4 |
NGS | 4-8 | ||
pappilär | MET | MET | 2-4 |
NGS | BAP1, FH, FLCN, MET, MITF, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL | BAP1, FH, FLCN, MET, MITF, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL | 4-6 Wochen |
Nijmegen-Chromosomenbruch-Syndrom | NBN | NBN | 4-5 |
Nijmegen-Chromosomenbruch-Syndrom | NBN | NBN | 4-5 |
NBN | NBN | 2-4 Wochen | |
NGS | NF1, NF2, CBL, NRAS, KRAS, PTPN11 | NF1, NF2, CBL, NRAS, KRAS, PTPN11 | 4-6 |
NDP | NDP | 2-4 | |
verschiedene Gene für NYS | verschiedene Gene für NYS | 4-8 | |
Typ 1 | FRMD7 | FRMD7 | 2-4 |
Typ 1 | FRMD7 | FRMD7 | 2-4 |
Typ 6 | GPR143 | GPR143 | 2-4 |
LRIG2 | LRIG2 | NULL | |
Okihiro-Syndrom | SALL4 | SALL4 | 4-6 |
Ornithintranscarbamylase-Mangel | OTC | OTC | 5-8 |
Ornithintranscarbamylase-Mangel | OTC | OTC | 3-4 |
NGS | COL1A1, COL1A2, CRTAP, FKBP10, LEPRE1, PPIB, SERPINF1, .. | COL1A1,COL1A2,CRTAP,FKBP10,LEPRE1,PPIB,SERPINF1,.. | 4-8 |
Typ 12 | SP7 | SP7 | 4-8 |
NGS | LMNA, MAFB, MMP14, MMP2, NOTCH2, TNFRSF11A, TREM2, TYROBP, ZMPSTE24 | LMNA, MAFB, MMP14, MMP2, NOTCH2, TNFRSF11A, TREM2, TYROBP, ZMPSTE24 | 4-6 |
Typ 2, 4 | CLCN7 | CLCN7 | 5-6 |
Typ 1 | TCIRG1 | TCIRG1 | 5-6 |
Typ 2 | TNFSF11 | TNFSF11 | 5-6 |
Typ 5 | OSTM1 | OSTM1 | 5-6 |
Typ 7 | TNFRSF11A | TNFRSF11A | 5-6 |
X-chromosomal | PLS3 | PLS3 | 4-8 |
LRP5 | LRP5 | 3-4 | |
FLNA | FLNA | NULL | |
2 | KRT17 | KRT17 | 4-8 |
NGS | KRT16, KRT17, KRT6A, KRT6B, KRT6C | KRT16, KRT17, KRT6A, KRT6B, KRT6C | 4-8 |
NGS | BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11 | BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11 | 4-8 |
- | CDKN2A | CDKN2A | 3-4 |
Pankreatische Colipase-Mangel | PNLIP | PNLIP | 2-4 |
PRSS1, SPINK1, CTRC | PRSS1, SPINK1, CTRC | 2-4 | |
Pankreatitis, hereditär | CFTR | CFTR | 1-3 |
Pankreatitis, hereditär | CFTR | CFTR | 1-3 |
Pankreatitis, hereditär | PRSS1 | PRSS1 | 3-4 |
Pankreatitis, hereditär | SPINK1 | SPINK1 | 3-4 |
SCN4A | SCN4A | 3-5 | |
PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1 | PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1 | 2-3 | |
17 | VPS35 | VPS35 | 4-8 |
23 | VPS13C | VPS13C | 4-8 |
frühkindlich hypotonisch | SLC18A2 | SLC18A2 | 4-8 |
Parkinson-Krankheit | LRRK2 | LRRK2 | 4-8 |
Parkinson-Krankheit | diverse | diverse | 4-8 |
Parkinson-Krankheit | PINK1 | PINK1 | 4-8 |
Parkinson-Krankheit | PINK1 | PINK1 | 4-8 |
Parkinson-Krankheit 1,4 | SNCA | SNCA | 4-8 |
Typ 2 | PRKN | PRKN | 4-8 |
paroxysmale nächtliche Hämoglobinurie | PIGA | PIGA | 2-4 |
paroxysmale nächtliche Hämoglobinurie | PIGA, PIGT | PIGA,PIGT | 2-4 |
partielle Chromosom Y-Deletion, AZF-Faktor | USP9Y | USP9Y | 2-4 |
Parvovirus B19 | 1-2 | ||
Peeling-Skin-Syndrom | TGM5 | TGM5 | 5-7 |
PLP1 | PLP1 | 2-3 | |
PLP1 | PLP1 | 2-3 | |
Pelizaeus-Merzbacher-ähnliche Krankheit | AIMP1 | AIMP1 | 5-7 |
Pelizaeus-Merzbacher-ähnliche Krankheit | GJC2 | GJC2 | 4-5 |
Pelizaeus-Merzbacher-ähnliche Krankheit | HSPD1 | HSPD1 | 4-5 |
Pendred-Syndrom | FOXI1, KCNJ10, SLC26A4 | FOXI1, KCNJ10, SLC26A4 | 15-16 |
CLPP; HARS2, HSD27B4, LARS2 | CLPP; HARS2, HSD27B4, LARS2 | 4-8 | |
Autosomal-rezessiv | HARS2 | HARS2 | 2-4 |
Autosomal-rezessiv | HSD17B4 | HSD17B4 | 3-4 |
Typ 3 | CLPP | CLPP | 3-4 |
Typ 4 | LARS2 | LARS2 | 3-4 |
ATOH7 | ATOH7 | 2-4 | |
- | PAX6 | PAX6 | 2-4 |
- | PITX2 | PITX2 | 2-4 |
B3GLCT | B3GLCT | 2-4 | |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 4-8 |
- | FGFR1 | FGFR1 | 1-2 |
- | FGFR1 | FGFR1 | 3-4 |
- | FGFR2 | FGFR2 | 1-2 |
- | FGFR2 | FGFR2 | 3-4 |
- | KIT | KIT | 3 |
Piebaldismus | SNAI2 | SNAI2 | 3-4 |
Piebaldismus | SNAI2 | SNAI2 | 3-4 |
Pierson-Syndrom | LAMB2 | LAMB2 | 2-4 |
RUNX1 | RUNX1 | ||
RUNX1, GATA2, TERC, TERT, CEBPA | RUNX1,GATA2,TERC,TERT,CEBPA | 2-4 Wochen | |
IQCE | IQCE | ||
AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 | AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 | NULL | |
autoimmun, Typ 1 | AIRE | AIRE | 2 - 4 |
autoimmun, Typ 1 | 2 - 4 | ||
STRADA | STRADA | NULL | |
POLD1 | POLD1 | ||
- | SMAD4 | SMAD4 | 4-8 |
- | SMAD4 | SMAD4 | 4-8 |
- | ALG8 | ALG8 | 3-4 |
- | GANAB | GANAB | 3-4 |
- | PRKCSH | PRKCSH | 3-4 |
- | SEC63 | SEC63 | 3-4 |
Typ 2C | TSEN34 | TSEN34 | NULL |
Porenzephalie 1 | COL4A1 | COL4A1 | 6-8 |
Porenzephalie 2 | COL4A2 | COL4A2 | 4-8 |
Porphyria variegata | PPOX | PPOX | 8-20 |
akute intermittierende | HMBS | HMBS | 8-20 |
SNRPN | SNRPN | 2-4 | |
PDE11A | PDE11A | 2-4 | |
4-8 | |||
Typ 1 | ATP8B1 | ATP8B1 | 2-4 |
Typ 2 | ABCB11 | ABCB11 | 2-4 |
Typ 3 | ABCB4 | ABCB4 | 2-4 |
Typ 3 | ABCB4 | ABCB4 | 2-4 |
Typ 4 | TJP2 | TJP2 | 2-4 |
NGS | AIP, DICER, MEN1, SDHB | AIP, DICER, MEN1, SDHB | 4-6 |
Protein-C-Rezeptor-Mangel | PROCR | PROCR | 3-4 |
NGS | AKT1, PIK3CA, PTEN | AKT1, PIK3CA, PTEN | 4-6 |
AKT1 | AKT1 | 3-4 | |
Pseudoachondroplasie | COMP | COMP | 2-4 |
GNAS | GNAS | 2-4 | |
Pseudoxanthoma elasticum | ABCC6 | ABCC6 | NULL |
Pseudoxanthoma elasticum | ABCC6 | ABCC6 | 2-4 |
Pyruvat-Carboxylase-Mangel | PC | PC | 2-4 |
PHYH | PHYH | 4-6 | |
NLRP7/NALP7, KHDC3L, MEI1, C11orf80 | NLRP7/NALP7, KHDC3L, MEI1, C11orf80 | ||
NULL | |||
NGS | 4-6 | ||
restriktive Dermopathie | ZMPSTE24 | ZMPSTE24 | 6-8 |
SMARCB1 | SMARCB1 | 2-3 Wochen | |
Roberts-Syndrom | ESCO2 | ESCO2 | 2-4 |
autosomal-dominant | DVL1 | DVL1 | 4-6 |
autosomal-dominant | WNT5A | WNT5A | 2-4 |
autosomal-rezessiv | ROR2 | ROR2 | 2-4 |
autosomal-rezessiv | ROR2 | ROR2 | 2-3 |
Schilddrüsen-Dyshormonogenese | TPO | TPO | 2-4 |
DUOX2 | DUOX2 | 2-4 | |
NGS | DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1 | DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2 | 4-8 |
TPO, PAX8, FOXE1, NKX2-1, TSHR | TPO, PAX8, FOXE1, NKX2-1, TSHR | 2-4 | |
NULL | |||
sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel | ACADVL | ACADVL | 2-4 |
ASXL2 | ASXL2 | NULL | |
SHOX-Defizienz | SHOX | SHOX | 2-4 |
SHOX-Defizienz | SHOX | SHOX | 2-4 |
NEU1 | NEU1 | NULL | |
Sialinsäure-Speicherkrankheit | SLC17A5 | SLC17A5 | 4-6 |
Methylierungsanalyse H19-DMR und KvDMR1 | H19, KCNQ1OT1 | H19,KCNQ1OT1 | 2-4 |
MLPA Analyse UPD(7)mat | GRB10, MEST | GRB10,MEST | 2-4 |
ALDH3A2/FALDH | ALDH3A2/FALDH | 2-4 | |
ALDH3A2/FALDH | ALDH3A2/FALDH | 3-5 | |
NGS | AMER1, ANKH, CA2, CLCN7, COL1A1, CSF1R, CTSK, DHCR24, DLX3, FAM20C, FERMT3, FGF23, GALNT3, GJA1, HPGD, IKBKG, KL, LEMD3, LRP4, LRP5, LRRK1, MAP2K1, MTAP, OSTM1, PLEKHM1, POLR3B, PTDSS1, PTH1R, SFRP4, SLC29A3, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, ..... | AMER1, ANKH, CA2, CLCN7, COL1A1, CSF1R, CTSK, DHCR24, DLX3, FAM20C, FERMT3, FGF23, GALNT3, GJA1, HPG | 4-6 |
NGS | ALPL, ANO5, ATP6V0A2, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DDX58, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MBTPS2, NBAS, NOTCH2, P3H1, P4HB, PLOD2, PLS3, POLR3A, PPIB, PYCR1, SEC24D, SERPINF1, SERPINH1, SGMS2, SP7, SPARC, TENT5A, ........ | ALPL, ANO5, ATP6V0A2, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DDX58, FKBP10, GORAB, | 4-6 |
Typ Charlevoix-Saguenay | SACS | SACS | 14-16 |
Typ 11 | SPG11 | SPG11 | 4-5 |
Typ 17 | BSCL2 | BSCL2 | 4-5 |
Typ 3 | ATL1 | ATL1 | 2-4 |
Typ 3 | ATL1 | ATL1 | 2-3 |
Typ 31 | REEP1 | REEP1 | 3-4 |
Typ 4 | SPAST | SPAST | 2-4 |
Typ 4 | SPAST | SPAST | 2-3 |
Typ 5 | CYP7B1 | CYP7B1 | 3-4 |
Typ 6 | NIPA1 | NIPA1 | NULL |
Typ 7 | SPG7 | SPG7 | 8-12 |
Typ 8 | KIAA0196 | KIAA0196 | NULL |
DDHD2 | DDHD2 | NULL | |
WASHC5 | WASHC5 | NULL | |
PNPLA6 | PNPLA6 | NULL | |
Typ 1 | IGHMBP2 | IGHMBP2 | 3-4 |
Typ 1, 2, 3, 4 | SMN1 | SMN1 | 3-4 |
Typ 1, 2, 3, 4 | SMN1 | SMN1 | 10-14 |
Typ 3 | SMN2 | SMN2 | 2-3 |
Typ trada | TRAPPC2 | TRAPPC2 | 2-4 |
kongenitaler Typ | COL2A1 | COL2A1 | 4-6 |
kongenitaler Typ | COL2A1 | COL2A1 | 4-6 |
kongenitaler Typ | COL2A1 | COL2A1 | 2-3 |
MATN3 | MATN3 | NULL | |
Stargardt-ähnliche Makuladystrophie | IMPG1 | IMPG1 | 2-4 |
COL27A1 | COL27A1 | NULL | |
Sterilität, CBAVD | CFTR | CFTR | 3-4 |
Sterilität, CBAVD | CFTR | CFTR | 3-4 |
Steroid-5-alpha-Reduktase-2-Mangel | SRD5A2 | SRD5A2 | 2-4 |
COL11A1 | COL11A1 | 2-4 | |
NGS | verschiedene Gene für STICK | verschiedene Gene für STICK | 4-8 |
Typ 1 | COL2A1 | COL2A1 | 4-6 |
Typ 1 | COL2A1 | COL2A1 | 4-6 |
Typ 1 | COL2A1 | COL2A1 | 2-3 |
Typ 2 | COL11A1 | COL11A1 | 4-6 |
Typ 2 | COL11A1 | COL11A1 | 2-4 |
Stuve-Wiedemann-Syndrom | LIFR | LIFR | 6-8 |
Störungen der Geschlechtsentwicklung | NR5A1 | NR5A1 | 2-4 |
WNT9B | WNT9B | 2-4 | |
Surfactant-Protein-Defizienz | SFTPC | SFTPC | 3-4 |
Surfactant-Protein-Defizienz | ABCA3 | ABCA3 | 3-4 |
Surfactant-Protein-Defizienz | ABCA3, SFTPC | ABCA3, SFTPC | 2-4 |
Surfactant-Protein-Defizienz | SFTPB | SFTPB | 3-4 |
Surfactant-Protein-Defizienz | SFTPB | SFTPB | 2-3 |
NGS | ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC | ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC | 6-8 |
NULL | |||
proximaler | GDF5 | GDF5 | 3-4 |
proximaler | NOG | NOG | 1-3 |
autoimmun-lymphoproliferatives Typ 2 | CASP10 | CASP10 | 2-4 |
MED13 | MED13 | ||
NGS | diverse Gene | diverse Gene | 4-8 |
NGS | CISD2, DCAF17, DNAJC3, EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, IER3IP1, MT-TL1, PAX6, RFX6, SLC19A2, SLC29A3, STAT3, TRMT10A, WFS1 | CISD2, DCAF17, DNAJC3, EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, IER3IP1, MT-TL1, PAX6, RFX6, SLC19A2, SL | 4-8 |
systemische juvenile rheumatoide Arthritis | IL6 | IL6 | 1-2 |
systemische juvenile rheumatoide Arthritis | IL6 | IL6 | 1-2 |
T-Zell-Rezeptor-gamma-Rearrangement | TCRG | TCRG | 2-3 |
RBM10 | RBM10 | 3-4 | |
AR | AR | 2-4 | |
HBA1, HBA2, HBB | HBA1, HBA2, HBB | 2-4 | |
Alpha | HBA1, HBA2 | HBA1, HBA2 | 2-4 |
Alpha | HBA1, HBA2 | HBA1, HBA2 | 2-4 |
Beta | HBB | HBB | 2-4 |
Beta | HBB | HBB | 2-4 |
HPFH | HBG1, HBG2 | HBG1, HBG2 | 3-4 |
SLC19A2 | SLC19A2 | 2-4 | |
Thrombotisch-thrombozytopenische Purpura | ADAMTS13 | ADAMTS13 | 2-4 |
MITF | MITF | 3-4 | |
Transaldolase-Mangel | TALDO1 | TALDO1 | 6-8 |
Treacher-Collins-Syndrom | POLR1C | POLR1C | 3-4 |
Treacher-Collins-Syndrom | POLR1D | POLR1D | 3-4 |
Treacher-Collins-Syndrom | TCOF1 | TCOF1 | 6-8 |
Treacher-Collins-Syndrom | TCOF1 | TCOF1 | 2-3 |
MLPA | TRPS1 | TRPS1 | 2-4 |
Trimethylaminurie | FMO3 | FMO3 | 2-4 |
TSC1, TSC2 | TSC1,TSC2 | 2-3 | |
Typ 1 | TSC1 | TSC1 | 3-4 |
Typ 2 | TSC2 | TSC2 | 4-5 |
2-3 | |||
Tumor-Prädispositionssyndrom | BAP1 | BAP1 | 2-4 |
Tumor-Prädispositionssyndrom | BAP1 | BAP1 | 2-4 |
Typ 1 | FAH | FAH | 4-6 |
KCNB1 | KCNB1 | NULL | |
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
CSTB | CSTB | 3-4 | |
Unverricht Lundborg Epilepsie | CSTB | CSTB | 4-5 |
NGS | divers | divers | 4-8 |
Typ 1B | MYO7A | MYO7A | 2-4 |
Typ 1C | USH1C | USH1C | 2-4 |
Typ 1D | CDH23 | CDH23 | 2-4 |
Typ 1F | PCDH15 | PCDH15 | 2-4 |
Typ 1F | PCDH15 | PCDH15 | 2-4 |
Typ 1G | USH1G | USH1G | 2-4 |
Typ 1J | CIB2 | CIB2 | 2-4 |
Typ 2 D | DFNB31 | DFNB31 | 2-4 |
Typ 2A | USH2A | USH2A | 2-4 |
Typ 2A | USH2A | USH2A | 2-4 |
Typ 2C | GPR98/ADGRV1 | GPR98/ADGRV1 | 2-4 |
Typ 3A | USH3A | USH3A | 2-3 |
Typ 3B | HARS | HARS | 2-4 |
Typ 48 | CIB2 | CIB2 | 3-4 |
Van-der-Woude-Syndrom | IRF6 | IRF6 | 4-6 |
Vitamin-E-abhängige Ataxie | TTPA | TTPA | 5-6 |
GHRHR | GHRHR | 2-4 | |
GH1 | GH1 | 2-4 | |
VCAN | VCAN | NULL | |
- | WT1 | WT1 | 3-4 |
B3GALNT2 | B3GALNT2 | NULL | |
ISPD | ISPD | NULL | |
4-8 | |||
POMT1 | POMT1 | NULL | |
POMT2 | POMT2 | 3-4 | |
TMEM5 | TMEM5 | NULL | |
WARS | WARS | NULL | |
Wiedemann-Steiner-Syndrom | KMT2A/MLL1 | KMT2A/MLL1 | 4-6 |
NULL | |||
Williams Beuren Syndrom | CLIP2, ELN, LIMK | CLIP2, ELN, LIMK | 3-4 |
Typ 2 | CISD2 | CISD2 | 2-4 |
WWP2 | WWP2 | ||
4-8 | |||
X-chromosomales Hyper-IgM-Syndrom | CD40LG, CD40, UNG, AICDA | CD40LG, CD40, UNG, AICDA | 5-6 Wochen |
4-6 | |||
Typ 1 | XDH | XDH | 2-4 |
primäre | PTH1R | PTH1R | 4-6 |
diverse | diverse | 4-8 | |
X-gekoppelt | ORF15, RPGR | ORF15, RPGR | 4-8 |
zerebraler cavernöse Fehlbildungen | KRIT1, CCM2, PDCD10 | KRIT1, CCM2, PDCD10 | 4-8 |
PKD1, PKD2, DNAJB11, GANAB, ALG9 | PKD1,PKD2,DNAJB11,GANAB,ALG9 | 12-18 | |
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
NULL | |||
NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8 | NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8 | 4-8 | |
NULL | |||
NULL | |||
NGS | 4-8 | ||
Renal tubuläre Dysgenesie | 12 | ||
8-12 | |||
SLC30A2 | SLC30A2 | 4-6 | |
ALG9 | ALG9 | 2-4 | |
MELAS-Syndrom* | |||
ATAD3B | ATAD3B | 2-4 | |
CDK13 | CDK13 | NULL | |
CTBP1 | CTBP1 | NULL | |
PCDH12 | PCDH12 | NULL | |
PCM1 | PCM1 | ||
PTCHD1 | PTCHD1 | NULL | |
RASA1 | RASA1 | ||
RREB1 | RREB1 | NULL | |
SH3TC1 | SH3TC1 | 3-4 | |
SHANK2 | SHANK2 | NULL | |
TANC2 | TANC2 | 2-4 | |
WDR91 | WDR91 | NULL | |
HMGCL | HMGCL | 2-4 | |
3-Methyl-Crotonyl-CoA-Carboxylase-1-Mangel | MCCC1 | MCCC1 | 2-4 |
Aarskog-Syndrom | FGD1 | FGD1 | 2-4 |
Aarskog-Syndrom | FGD1 | FGD1 | 4-6 |
Abetalipoproteinämie | MTP | MTP | 4-6 |
Typ 1B | SLC26A2 | SLC26A2 | 3-4 |
Typ 2 | COL2A1 | COL2A1 | 4-6 |
Typ 2 | COL2A1 | COL2A1 | 4-6 |
Typ 2 | COL2A1 | COL2A1 | 2-3 |
GLI3, KIF7 | GLI3, KIF7 | NULL | |
ACTH-Mangel | TBX19 | TBX19 | 2-4 |
ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ | ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ | 4-8 | |
ADSL | ADSL | 6-10 | |
KSR2 | KSR2 | 2-4 | |
DYRK1B | DYRK1B | 2-4 | |
- | LEP | LEP | 2-4 |
- | LEPR | LEPR | 2-4 |
- | MC3R | MC3R | 2-4 |
- | MC4R | MC4R | 2-4 |
- | PCSK1 | PCSK1 | 2-4 |
- | POMC | POMC | 2-4 |
MLPA | LEPR, MC4R, POMC, LEP, MC2R | LEPR, MC4R, POMC, LEP, MC2R | 2-4 |
NGS | BBS1, BBS10, DYRK1B, KSR2, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, PPARG, SIM1, UCP3 | BBS1,BBS10,DYRK1B,KSR2,LEP,LEPR,MC3R,MC4R,NR0B2,NTRK2,PCSK1,POMC,PPARG,SIM1,UCP3 | 4-6 |
ADPKD | PKD1, PKD2 | PKD1, PKD2 | 2-4 |
Agammaglobulinämie | IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 | IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 | 4-6 |
X-chromosomal 1 | BTK | BTK | 2-4 |
NGS | BCKDHA, BCKDHB, DBT, DLD | BCKDHA, BCKDHB, DBT, DLD | 4-6 |
Typ 1A | BCKDHA | BCKDHA | 2-4 |
Typ 1B | BCKDHB | BCKDHB | 2-4 |
Typ 2 | DBT | DBT | 2-4 |
NGS | IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR | IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR | 4-8 |
- | COL3A1 | COL3A1 | 2-4 |
verschiedene Gene für ALB | verschiedene Gene für ALB | 4-6 | |
GNAS | GNAS | 2-4 | |
Alexander-Syndrom | GFAP | GFAP | 4-6 |
Alkaptonurie | HGD | HGD | 2-4 |
alpha-1-Antitrypsin-Mangel | SERPINA1 | SERPINA1 | 1-2 |
Alpha-Ketoglutarat-Dehydrogenase-Mangel | OGDH | OGDH | 3-5 |
IGFALS | IGFALS | 2-4 | |
SLC34A2 | SLC34A2 | 2-4 | |
Amyloidpolyneuropathie | TTR | TTR | 2-3 |
Amyloidpolyneuropathie | TTR | TTR | 2-3 |
SIGMAR1 | SIGMAR1 | NULL | |
SEPTIN9 | SEPTIN9 | ||
PIP | PIP | NULL | |
Androgeninsensitivitäts-Syndrom | AR | AR | 2-4 |
Androgeninsensitivitäts-Syndrom | AR | AR | 2-4 |
SNRPN, UBE3A | SNRPN,UBE3A | 2-4 | |
4-8 | |||
Sequenzierung des UBE3A-Gens | UBE3A | UBE3A | 2-4 |
Angiotensin 1 konvertierendes Enzym | ACE | ACE | 1-2 |
ANK3 | ANK3 | ||
RSPO4 | RSPO4 | 3-4 | |
ANXA1-Mutation | ANXA1 | ANXA1 | 3-4 |
familiäres thorakales | ACTA2 | ACTA2 | 4-5 |
familiäres thorakales | MYLK | MYLK | 10-11 |
NGS | BCOR, BCORL1, DNMT3A, PIGA, ASXL1 | BCOR, BCORL1, DNMT3A, PIGA, ASXL1 | 2-3 |
Apparenter Mineralocorticoid-Überschuss | HSD11B2 | HSD11B2 | 2-4 |
kongenitale kontrakturale | FBN2 | FBN2 | 5-6 |
Typ 1 | VPS33B, VIPAS39 | VPS33B,VIPAS39 | 4-6 |
Typ 1 | VPS33B | VPS33B | 2-4 |
Typ 2 | VIPAS39 | VIPAS39 | 2-4 |
KARS | KARS | NULL | |
PTPRQ | PTPRQ | 3-6 | |
PKHD1, DZIP1L, PKD1 | PKHD1, DZIP1L, PKD1 | 15-16 | |
PKHD1 | PKHD1 | 2-4 | |
DZIP1L | DZIP1L | NULL | |
PKHD1L1 | PKHD1L1 | 4-6 | |
familiäre isolierte | RYR2 | RYR2 | 2-4 |
der Kindheit | WISP3 | WISP3 | 2-4 |
ARX-assoziierte Erkrankungen | ARX | ARX | 3-4 |
- | MRE11A | MRE11A | 3-5 |
AFG3L2 | AFG3L2 | NULL | |
Typ 1 | FLNB | FLNB | 2-3 |
Typ 1 | FLNB | FLNB | 2-4 |
Typ 1 | FLNB | FLNB | 2-4 |
Typ 2 | SLC26A2 | SLC26A2 | 3-4 |
Typ 3 | FLNB | FLNB | 2-3 |
Typ 3 | FLNB | FLNB | 3-4 |
Typ 3 | FLNB | FLNB | 5-6 |
NLGN1 | NLGN1 | ||
Typ 1 | PITX2 | PITX2 | 2-4 |
NGS | 4-6 | ||
Methylierungsanalyse H19-DMR und KvDMR1 | H19, KCNQ1OT1 | H19,KCNQ1OT1 | 2-4 |
Sequenzanalyse CDKN1C | CDKN1C | CDKN1C | 4-6 |
Sequenzanalyse CDKN1C | CDKN1C | CDKN1C | 2-4 |
Sequenzanalyse NLRP2 | NLRP2 | NLRP2 | 2-4 |
4-8 | |||
- | GP1BA, GP1BB, G9 | GP1BA, GP1BB, G9 | 4-6 |
Typ C | GP9 | GP9 | 2-4 |
bikuspide Aortenklappe | GATA5, NKX2-5, NOTCH1, SMAD6 | GATA5, NKX2-5, NOTCH1, SMAD6 | 4-6 |
Biotinidase-Mangel | BTD | BTD | 2-4 |
BTD | BTD | NULL | |
- | DICER1 | DICER1 | 4-8 |
- | DICER1 | DICER1 | 4-8 |
Bohring-Opitz-Syndrom | ASXL1 | ASXL1 | 2-4 |
FLNB | FLNB | 2-3 | |
FLNB | FLNB | 3-4 | |
FLNB | FLNB | 5-6 | |
IHH | IHH | 2-4 | |
Brown-Vialetto-van Laere-Syndrom | SLC52A3 | SLC52A3 | 2-4 |
Brown-Vialetto-van Laere-Syndrom | SLC52A2 | SLC52A2 | 2-4 |
BARD1 | BARD1 | 2-3 | |
BRIP1 | BRIP1 | 2-3 | |
- | ATM | ATM | 4-5 |
- | ATM | ATM | 4-6 |
- | BARD1 | BARD1 | 4-8 |
- | BRCA1, BRCA2 | BRCA1, BRCA2 | 4-8 |
- | BRCA1 | BRCA1 | 4-6 |
- | BRCA1 | BRCA1 | 2-3 |
- | BRCA2 | BRCA2 | 4-6 |
- | BRCA2 | BRCA2 | 2-3 |
- | BRIP1 | BRIP1 | 4-5 |
- | CHEK2 | CHEK2 | 4-6 |
- | CHEK2 | CHEK2 | 4-6 |
- | CHEK2 | CHEK2 | 4-6 |
- | NBN | NBN | 4-5 |
- | PALB2 | PALB2 | 2-4 |
- | RAD51C | RAD51C | 4-5 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
MLPA | PALB2, RAD50, RAD51D | PALB2, RAD50, RAD51D | 2-4 |
RAD50 | RAD50 | ||
TXNL4A | TXNL4A | 2-4 | |
Butyrylcholinesterase-Mangel | BCHE | BCHE | 4-5 |
CACH-Syndrom | EIF2B1 | EIF2B1 | 3-4 |
CACH-Syndrom | EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 | EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 | 6-8 |
CACH-Syndrom | EIF2B2 | EIF2B2 | 4-5 |
CACH-Syndrom | EIF2B3 | EIF2B3 | 4-5 |
CACH-Syndrom | EIF2B4 | EIF2B4 | 4-5 |
CACH-Syndrom | EIF2B5 | EIF2B5 | 4-5 |
Caffey-Krankheit | COL1A1 | COL1A1 | 4-6 |
Caffey-Krankheit | COL1A1 | COL1A1 | 2-3 |
CAMRQ-Syndrom | ATP8A2 | ATP8A2 | 4-6 |
Canavan-Krankheit | ASPA | ASPA | 4-6 |
Typ 1 | PRKAR1A | PRKAR1A | 4-6 |
DSP | DSP | 2-4 | |
neuronale | 4-8 | ||
Typ 1 | PPT1 | PPT1 | 5-6 |
Typ 1, 8, 2, 6, 3 | PPT1, CLN8, TPP1, CLN6, CLN3 | PPT1, CLN8, TPP1, CLN6, CLN3 | 3-4 |
Typ 2 | TPP1 | TPP1 | 10-12 |
Typ 3 | CLN3 | CLN3 | 10-12 |
Typ 3 | CLN3 | CLN3 | 10-12 |
Typ 5 | CLN5 | CLN5 | NULL |
Typ 6 | CLN6 | CLN6 | 3-4 |
Typ 7 | MFSD8 | MFSD8 | 3-4 |
Typ 8 | CLN8 | CLN8 | 3-4 |
NDRG1 | NDRG1 | NULL | |
ERF | ERF | NULL | |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
rhizomele, Typ 1 | PEX7 | PEX7 | 4-6 |
rhizomele, Typ 2 | GNPAT | GNPAT | 4-6 |
rhizomele, Typ 3 | AGPS | AGPS | 4-6 |
Typ 2 | EBP | EBP | 4-8 |
x-chromosomal, brachytelephalangealer Typ | ARSE | ARSE | 4-8 |
metaphysäre, Typ Schmid | COL10A1 | COL10A1 | 2-3 |
Typ Blomstrand | PTH1R | PTH1R | NULL |
Chorea Huntington | HTT | HTT | 4-5 |
- | NKX2-1 | NKX2-1 | 3-4 |
Chorea-Akanthozytose | VPS13A | VPS13A | 7-9 |
Chorioideremie | CHM | CHM | 4-6 |
CHM | CHM | 4-6 | |
NULL | |||
IgVH | IgVH | 2-3 | |
CHST3-assoziierte Skelettdysplasie | CHST3 | CHST3 | 2-4 |
CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2 | CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2 | 4-6 | |
Typ A | ERCC8 | ERCC8 | 3-4 |
Typ B | ERCC6 | ERCC6 | 3-4 |
RPS6KA3 | RPS6KA3 | NULL | |
SMARCE1 | SMARCE1 | ||
4-6 | |||
VPS13B/COH1 | VPS13B/COH1 | 4-6 | |
VPS13B/COH1 | VPS13B/COH1 | 2-3 | |
RAD21 | RAD21 | NULL | |
4-6 | |||
NGS | AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD | AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD | 4-6 |
Typ 1 | PTEN | PTEN | 3-4 |
Typ 1 | PTEN | PTEN | 2-3 |
Typ 1 | PTEN | PTEN | 2-3 |
Typ 2 | SDHB | SDHB | 3-4 |
Typ 3 | SDHD | SDHD | 3-4 |
Typ 4 | KLLN | KLLN | 3-4 |
Typ 5 | PIK3CA | PIK3CA | 3-4 |
Typ 6 | AKT1 | AKT1 | 3-4 |
Typ 7 | SEC23B | SEC23B | 3-4 |
SDHB | SDHB | 3-4 | |
Crigler-Najjar-Syndrom | UGT1A1 | UGT1A1 | 4-5 |
1 | CRLF1 | CRLF1 | 3-4 |
Crouzon-Syndrom | FGFR2 | FGFR2 | 3-4 |
Crouzon-Syndrom mit Akanthose nigricans | FGFR3 | FGFR3 | 3-4 |
Cumarin/Warfarin-Sensitivität | CYP4F2 | CYP4F2 | 2-3 |
Cumarin/Warfarin-Sensitivität | VKORC1 | VKORC1 | 2-3 |
Cystinose | CTNS | CTNS | 2-4 |
Cystinose | CTNS | CTNS | 2-4 |
Typ 1 | SLC3A1 und SLC7A9 | SLC3A1 und SLC7A9 | 2-4 |
Typ 1 | SLC3A1 | SLC3A1 | 2-4 |
Typ 2 und 3 | SLC7A9 | SLC7A9 | 2-4 |
- | CLCN5 | CLCN5 | 2-4 |
- | OCRL/OCRL1 | OCRL/OCRL1 | 2-4 |
NGS | 4-6 | ||
DSPP | DSPP | NULL | |
DES | DES | 2-4 | |
Diabetes insipidus | AVP, AVPR2, AQP2 | AVP, AVPR2, AQP2 | 4-6 |
Diamond-Blackfan-Anämie | GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26 | GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26 | 4-6 |
Diamond-Blackfan-Anämie | RPS19 | RPS19 | 2-4 |
PHIP | PHIP | NULL | |
Dihydropyrimidin-Dehydrogenase-Mangel | DPYD | DPYD | 1 |
FLNC | FLNC | NULL | |
DNAJC6 | DNAJC6 | NULL | |
autosomal-dominant | GCH1 | GCH1 | 2-3 |
autosomal-dominant | GCH1 | GCH1 | 3-4 |
autosomal-rezessives | TH | TH | 2-4 |
autosomal-rezessives | TH | TH | 2-4 |
Dravet Syndrom | GABRG2 | GABRG2 | 3-4 |
ROBO3 | ROBO3 | 2-4 | |
DYM | DYM | 2-4 | |
- | IKBKAP | IKBKAP | 3-4 |
Typ 6 | THAP1 | THAP1 | 4-5 |
4-8 | |||
Eagle-Barret-Syndrom | CHRM3 | CHRM3 | 5-6 |
EGFR | EGFR | NULL | |
COL5A1 | COL5A1 | NULL | |
EMD | EMD | 2-4 | |
breast cancer | 1 | ||
kongenitale, durch Enteropeptidase-Mangel | TMPRSS15/PRSS7 | TMPRSS15/PRSS7 | 2-4 |
TRRAP | TRRAP | ||
ST7 | ST7 | NULL | |
SUOX | SUOX | 3-5 | |
Enzephalopathie, epileptische frühinfantile | SCN2A | SCN2A | 6-8 |
FGFR1 | FGFR1 | NULL | |
- | COL17A1 | COL17A1 | 6-8 |
- | COL7A1, KRT5 | COL7A1, KRT5 | 2-3 |
dystrophe | COL7A1 | COL7A1 | 6-8 |
junktionale | ITGB4 | ITGB4 | 2-4 |
junktionale | LAMA3 | LAMA3 | 4-5 |
junktionale, Typ nicht-Herlitz | LAMB3 | LAMB3 | 3-4 |
NGS | COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5 | COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5 | 4-8 |
Typ Herlitz | LAMC2 | LAMC2 | 3-4 |
HCN1 | HCN1 | ||
NTRK2 | NTRK2 | 4-6 | |
GRIN2B | GRIN2B | NULL | |
SLC6A1 | SLC6A1 | NULL | |
6 | |||
Typ 1 und 3B | KIF21A | KIF21A | 2-4 |
Typ 2 | PHOX2A | PHOX2A | 2-4 |
Typ 3A | TUBB3 | TUBB3 | 4-5 |
NGS | ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ... | ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, | 4-6 |
Faktor 11-Mangel | F11 | F11 | 4-6 |
Faktor12-Mangel | F12 | F12 | 3-5 |
Faktor 13A1-Mangel | F13A1 | F13A1 | 4-6 |
Faktor V-Mangel | F5 | F5 | 3-4 |
familiäre atypische Mykobakteriose | IFNGR1 | IFNGR1 | NULL |
ADCY5 | ADCY5 | NULL | |
FANCA | FANCA | ||
3 | |||
FA2H | FA2H | 3-4 | |
FGFR3 | FGFR3 | 3-4 | |
Fibula-Aplasie und komplexe Brachydaktylie | GDF5 | GDF5 | 2-4 |
Frank-Ter Haar Syndrom | SH3PXD2B | SH3PXD2B | 6-8 |
AFF2 | AFF2 | NULL | |
ALDOB | ALDOB | ||
Fruktoseintoleranz, hereditär | ALDOB | ALDOB | 2-4 |
SZT2 | SZT2 | NULL | |
1 | |||
juveniler Typ | CTSA | CTSA | 2-4 |
SOX3 | SOX3 | 2-4 | |
Typ 1 | ENPP1 | ENPP1 | 2-4 |
generalisierten pustulösen Psoriasis | IL36RN | IL36RN | 3-4 |
SRY | SRY | 2-4 | |
NR5A1 | NR5A1 | 2-4 | |
- | AMXY | AMXY | 3-4 |
- | SRY | SRY | 2-4 |
Gonadendysgenesie | NR0B1 | NR0B1 | 2-4 |
Gonadendysgenesie | NR0B1 | NR0B1 | 2-4 |
Typ 1A | MYOT | MYOT | 2-4 |
Typ 2A | CAPN3 | CAPN3 | 2-4 |
Typ 2B | DYSF | DYSF | 2-4 |
Typ 2C | SGCG | SGCG | 2-4 |
Typ 2D | SGCA | SGCA | 2-4 |
Typ 2E | SGCB | SGCB | 2-4 |
Typ 2I | FKRP | FKRP | 2-4 |
FKTN | FKTN | 2-4 | |
APOL1 | APOL1 | 3-4 | |
4-6 | |||
Fruktose 1,6 Bisphosphatase-Mangel | FBP1 | FBP1 | 2-4 |
Fruktose 1,6 Bisphosphatase-Mangel | ALDOB, FBP1 | ALDOB, FBP1 | 2-4 |
Glucose-6-Phosphat-Dehydrogenase-Defizienz | G6PD | G6PD | 4-6 |
SLC2A1 | SLC2A1 | 3-4 | |
SLC2A1 | SLC2A1 | 3-4 | |
GSTM1, GSTP1, GSTT1 | GSTM1, GSTP1, GSTT1 | 2-3 | |
Typ 0 | GYS2 | GYS2 | 2-4 |
Typ 1B/1C | SLC37A4/G6PT1 | SLC37A4/G6PT1 | 2-4 |
Typ 2 | GAA | GAA | 2-4 |
Typ 2 | GAA | GAA | 2-4 |
Typ 3b | AGL | AGL | 2-4 |
Typ 4 | GBE1 | GBE1 | 2-4 |
Typ 5 | PYGM | PYGM | 2-4 |
Typ 6 | PYGL | PYGL | 2-4 |
Typ 7 | PFKM | PFKM | 2-4 |
Typ 9A | PHKA2 | PHKA2 | 2-4 |
Typ 9B | PHKB | PHKB | 2-4 |
NGS | AGL, FBP1, G6PC, GAA, GBE1, PHKA2, PHKB, PHKG2, PYGM, SLC2A2, SLC37A4, ALDOA, ENO3, EPM2A, FBP2, GYG1, GYG2, GYS1, GYS2, LAMP2, LDHA, LDHB, NHLRC1, PFKL, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKG1, PRKAG2, PRKAG3, PYGL | AGL,FBP1,G6PC,GAA,GBE1,PHKA2,PHKB,PHKG2,PYGM,SLC2A2,SLC37A4,ALDOA,ENO3,EPM2A,FBP2,GYG1,GYG2,GYS1,GYS | 4-8 |
Typ 11 | SLC2A2 | SLC2A2 | 2-4 |
Typ 1A | G6PC1/G6PC | G6PC1/G6PC | 2-4 |
Typ 1-3 | GLB1 | GLB1 | 14-16 |
PTCH1 | PTCH1 | ||
Gray-platelet-Syndrom | NBEAL2 | NBEAL2 | 8-10 |
GLI3 | GLI3 | 2-3 | |
GRIN1 | GRIN1 | NULL | |
X-Chromosomal | POU3F4 | POU3F4 | 2-4 |
- | BRAF | BRAF | 2 |
NGS | BRAF, KLF2, CDKN1B | BRAF, KLF2, CDKN1B | 2 |
GATA3 | GATA3 | NULL | |
GATA3 | GATA3 | NULL | |
HECW2 | HECW2 | NULL | |
Prognosemarker | IL-28B | IL-28B | 2-3 |
NGS | ABCB11, AGL, APC, CDKN2A, FAH, G6PC, HMBS, PPOX, PRKAR1A, SPRTN, BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2 | ABCB11, AGL, APC, CDKN2A, FAH, G6PC, HMBS, PPOX, PRKAR1A, SPRTN, BRCA2, BRIP1, FANCA, FANCB, FANCC, | 4-8 |
PMP22 | PMP22 | 3-4 | |
PMP22 | PMP22 | 3-4 | |
DNMT1 | DNMT1 | NULL | |
KCNN4, PIEZO1, SLC4A1, RHAG, RHCE, RHD, ABCB6 und SLC2A1 | KCNN4, PIEZO1, SLC4A1, RHAG, RHCE, RHD, ABCB6 und SLC2A1 | ||
verschiedene Gene für HPS | verschiedene Gene für HPS | 4-8 | |
Typ 1 | HPS1 | HPS1 | 2-4 |
Typ 3 | HPS3 | HPS3 | 2-4 |
Typ 5 | HPS5 | HPS5 | 2-4 |
Typ 6 | HPS6 | HPS6 | 2-4 |
Typ 8 | BLOC1S3 | BLOC1S3 | 2-4 |
MED13L | MED13L | NULL | |
verschiedene Gene | verschiedene Gene | NULL | |
- | EDN3 | EDN3 | 3-4 |
- | EDNRB | EDNRB | 3-4 |
Histaminintoleranz | ABP1 | ABP1 | 4-6 |
Histaminintoleranz | HNMT | HNMT | 4-5 |
HIV-1-Wirtsresistenz | CCR5 | CCR5 | 2-3 |
4-6 | |||
Holoprosenzephalie | GLI2 | GLI2 | 7-8 |
Holoprosenzephalie | PTCH1 | PTCH1 | 4-6 |
Holoprosenzephalie | SHH | SHH | 4-6 |
Holoprosenzephalie | SIX3 | SIX3 | 8-9 |
Holoprosenzephalie | TGIF | TGIF | 7-8 |
Holoprosenzephalie | ZIC2 | ZIC2 | 8-10 |
Holt-Oram-Syndrom | TBX5 | TBX5 | 2-4 |
Holt-Oram-Syndrom | TBX5 | TBX5 | 2-4 |
Homocysteinämie | CBS | CBS | 4-6 |
- | DCN | DCN | 2-4 |
- | SLC4A11 | SLC4A11 | 2-4 |
Hornhautdystrophie | ZEB1 | ZEB1 | 2-4 |
Hutchinson-Gilford-Syndrom | LMNA | LMNA | 3-4 |
KYNU | KYNU | 5-6 | |
X-chromosomal | L1CAM | L1CAM | 3-5 |
Hyper-IgE-Syndrom | DOCK8 | DOCK8 | 4-8 |
Hyper-IgE-Syndrom | DOCK8 | DOCK8 | 4-8 |
Hyper-IgE-Syndrom | STAT3 | STAT3 | 4-8 |
Hyper-IgE-Syndrom | TYK2 | TYK2 | 4-8 |
NGS | DOCK8, STAT3, TYK2 | DOCK8, STAT3, TYK2 | 4-8 |
Hypereosinophilie-Syndrom | FIP1L1, PDGFRA | FIP1L1, PDGFRA | 3-4 |
SCN4A | SCN4A | 3-5 | |
CASR | CASR | 2-4 | |
Typ 2 | GNA11 | GNA11 | 2-4 |
Typ 3 | AP2S1 | AP2S1 | 2-4 |
Typ1 | CASR | CASR | 2-4 |
Hyperlipoproteinämie | LPL | LPL | 2-4 |
Typ 3 | APOE | APOE | 2-3 |
Typ 1 | AGXT | AGXT | 2-4 |
Typ 1 | AGXT | AGXT | 2-4 |
Typ 2 | GRHPR | GRHPR | 2-4 |
Typ 2 | GRHPR | GRHPR | 2-4 |
Typ 3 | HOGA1/DHDPSL | HOGA1/DHDPSL | 2-4 |
SLC26A1 | SLC26A1 | 2-4 | |
4-6 | |||
TRPV6 | TRPV6 | 2-4 | |
PIGV | PIGV | NULL | |
Typ 2 | ALDH4A1 | ALDH4A1 | 3-4 |
4-6 | |||
Hypoalphalipoproteinämie | LCAT | LCAT | 2-4 |
Hypochondrogenesie | COL2A1 | COL2A1 | 4-6 |
Hypochondrogenesie | COL2A1 | COL2A1 | 4-6 |
Hypochondrogenesie | COL2A1 | COL2A1 | 2-3 |
AKT2 | AKT2 | 2-4 | |
ACAT1, CA5A, FBP1, G6PC, GYS1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, PC, PCK1, PCK2, PYGL, SLC16A1 | ACAT1, CA5A, FBP1, G6PC, GYS1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, PC, PCK1, PCK2, PYGL, SLC16A1 | ||
NGS | 4-8 | ||
NGS | 4-6 | ||
kongenitale Katarakt | FAM126A | FAM126A | 4-6 |
SLC34A3 | SLC34A3 | 2-4 | |
SLC34A1 | SLC34A1 | 2-4 | |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
NGS | ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3 | ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3 | 4-8 |
Typ 1 | LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR | LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR | 2-4 |
Typ 1 | POU1F1 | POU1F1 | 2-4 |
Typ 3 | LHX3 | LHX3 | 2-4 |
Typ 4 | LHX4 | LHX4 | 2-4 |
Typ 5 | HESX1 | HESX1 | 2-4 |
Typ 2 | SLC38A8 | SLC38A8 | 3-4 |
hypoplastisches Linksherz-Syndrom | NKX2-5 | NKX2-5 | 2-4 |
Typ 1 | SLC22A12 | SLC22A12 | 2-4 |
Typ 2 | SLC2A9 | SLC2A9 | 2-4 |
MLPA | 2-4 | ||
NGS | HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6 | HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6 | 4-8 |
Typ 1 | HFE | HFE | 4-8 |
Typ 2A | HFE2/HJV | HFE2/HJV | 4-8 |
Typ 2B | HAMP | HAMP | 4-8 |
Typ 3 | TFR2 | TFR2 | 4-8 |
Typ 4 | SLC40A1 | SLC40A1 | 2-4 |
Typ 5 | BMP6 | BMP6 | 4-8 |
Hämophilie B | F9 | F9 | 4-6 |
NGS | ABCA12, ALOX12B, ALOXE3, CYP4F22, KRT1, KRT10, LIPN, NIPAL4, STS, TGM1 und weitere | ABCA12, ALOX12B, ALOXE3, CYP4F22, KRT1, KRT10, LIPN, NIPAL4, STS, TGM1 und weitere | 4-8 |
X-chromosomale | STS | STS | 5-8 |
X-chromosomale | STS | STS | 5-8 |
ADCY10 | ADCY10 | 2-4 | |
IGF1R, IGFBP3, IGFALS | IGF1R, IGFBP3, IGFALS | 2-4 | |
IL3RA | IL3RA | 2-4 | |
kombinierter schwerer | JAK3 | JAK3 | 4-6 |
kombinierter schwerer | CD247, CD3D/E, CD45, CORO1A, DCLRE1C , IL2RG, IL7R | CD247, CD3D/E, CD45, CORO1A, DCLRE1C ,IL2RG, IL7R | 4-8 |
kombinierter schwerer | ZAP70 | ZAP70 | 6-8 |
Immundefizienz | IRAK4 | IRAK4 | 6-8 |
Immunglobulin A (IgA)-Mangel | TNFRSF13B | TNFRSF13B | 4-6 |
ITGA2 | ITGA2 | 2-3 | |
DEAF1 | DEAF1 | NULL | |
CNKSR2 | CNKSR2 | NULL | |
SETD5 | SETD5 | NULL | |
Interleukin-1 Rezeptor-Antagonist-Mangel | IL1RN | IL1RN | 3-5 |
NULL | |||
Isovalerianazidämie | IVD | IVD | 5-6 |
CACNB4 | CACNB4 | 34-35 | |
CACNG4 | CACNG4 | NULL | |
- | FGFR1, PROKR2, PROK2, KISS1R, NELF, GNRH1, GNRHR | FGFR1, PROKR2, PROK2, KISS1R, NELF, GNRH1, GNRHR | 3-4 |
- | KISS1R | KISS1R | 2-4 |
- | TACR3 | TACR3 | 2-4 |
NGS | 4-8 | ||
Typ 1 | KAL1/ANOS1 | KAL1/ANOS1 | 2-4 |
Typ 1 | KAL1/ANOS1 | KAL1/ANOS1 | 2-4 |
Typ 2 | FGFR1 | FGFR1 | 2-4 |
Typ 3 | PROKR2 | PROKR2 | 2-4 |
Typ 5 | CHD7 | CHD7 | 2-4 |
Typ 5 | CHD7 | CHD7 | 2-4 |
Typ 6 | FGF8 | FGF8 | 2-4 |
TNNI3 | TNNI3 | 2-4 | |
dilatativ / hypertrophe | NEXN | NEXN | 2-4 |
dilatative | ACTN2 | ACTN2 | NULL |
dilatative | TNNT2 | TNNT2 | 2-4 |
dilatative | MYH7 | MYH7 | 2-4 |
dilatative oder hypertrophe | MYBPC3 | MYBPC3 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | DSG2 | DSG2 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | PKP2 | PKP2 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | PKP2 | PKP2 | 2-4 |
hypertrophe | TPM1 | TPM1 | NULL |
hypertrophe | RBM20 | RBM20 | 2-4 |
LDB3 | LDB3 | NULL | |
MYH6 | MYH6 | 2-4 | |
MYOM1 | MYOM1 | 2-4 | |
PLN | PLN | NULL | |
SLC25A3 | SLC25A3 | 3-4 | |
NGS | ACTC1, ACTN2, ALPK3, ANKRD1, CALR3, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, SLC25A4, SOS1, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL | ACTC1, ACTN2, ALPK3, ANKRD1, CALR3, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, M | 4-8 |
LMNA | LMNA | 2-4 | |
TTN | TTN | NULL | |
NHS | NHS | 2-4 | |
Typ 17 | CRYBB1 | CRYBB1 | 2-4 |
Typ 2 | CRYGC | CRYGC | 2-4 |
Typ 3 | CRYBB2 | CRYBB2 | 2-4 |
Typ 31 | CHMP4B | CHMP4B | 2-4 |
Typ 4 | CRYGD | CRYGD | 2-4 |
Typ 9 | CRYAA | CRYAA | 2-4 |
Kaudale Regressions-Sequenz | VANGL1 | VANGL1 | 5-6 |
Kearns-Sayre-Syndrom | MTTL2 | MTTL2 | 3-4 |
NGS | ACADM, ACADVL, HADHA, HADHB, HMGCL, HMGCS2 | ACADM,ACADVL,HADHA,HADHB,HMGCL,HMGCS2 | 4-8 |
3-Hydroxyisobutyrat-Dehydrogenase-Mangel | HIBADH | HIBADH | 2-4 |
NGS | ACAT1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, SLC16A1 | ACAT1,GYS2,HIBADH,HMGCL,HSD17B10,OXCT1,SLC16A1 | 2-4 |
Ketothiolase-Mangel | ACAT1 | ACAT1 | 2-4 |
MGP | MGP | 4-6 | |
ACAN, FGFR3, GH1, GHR, GHRHR, GHSR, IGF1, IGF1R, IGFALS, IHH, NPR2, SHOX, STAT5B | ACAN,FGFR3,GH1,GHR,GHRHR,GHSR,IGF1,IGF1R,IGFALS,IHH,NPR2,SHOX,STAT5B | 4-6 | |
ACAN, COL10A1, COL2A1, COMP, FGFR3, IHH, NPR2, PTH1R, PTHLH, ROR2, SHOX | ACAN,COL10A1,COL2A1,COMP,FGFR3,IHH,NPR2,PTH1R,PTHLH,ROR2,SHOX | 4-6 | |
BRAF, CREBBP, CUL7, DHCR7, HRAS, NIPBL, PTPN11 | BRAF,CREBBP,CUL7,DHCR7,HRAS,NIPBL,PTPN11 | 4-6 | |
diastrophischer | SLC26A2 | SLC26A2 | 2-4 |
Typ 1 | GDF6 | GDF6 | 8-20 |
Typ 3 | GDF3 | GDF3 | 8-20 |
ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, TET2, TP53, U2AF1 | ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, T | 2 | |
ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, TET2, TP53, U2AF1 | ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, T | 2 | |
NGS | RCA2 (FANCD1), BRIP1 (FANCJ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, MPL, SBDS... | RCA2 (FANCD1), BRIP1 (FANCJ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, | 4-8 |
POLE1 | POLE1 | 4-6 | |
hereditäres nicht polypöses | PMS2 | PMS2 | 4-6 |
hereditäres nicht polypöses | NULL | ||
Immunhistochemie (MLH1, MSH2, MSH6, PMS2) | 3-6 | ||
NGS | MLH1, MSH2, MSH6, PMS2, EPCAM | MLH1, MSH2, MSH6, PMS2, EPCAM | 4-8 |
CARS2 | CARS2 | ||
kombinierter Faktor 5 und 8-Mangel | LMAN1 | LMAN1 | 4-6 |
verschiedene Gene für CFEOM | verschiedene Gene für CFEOM | 4-8 | |
kongenitalse malabsorptive Diarrhoe | NEUROG3 | NEUROG3 | 4-8 |
1-2 | |||
LARGE assoziierte Erkrankungen | LARGE | LARGE | 5-6 |
amyotrophe | FUS | FUS | 8 |
amyotrophe | CHCHD10 | CHCHD10 | 2-4 |
amyotrophe | KIF5A | KIF5A | 3-4 |
amyotrophe | SOD1 | SOD1 | 3-4 |
amyotrophe 14 | VCP | VCP | 2-6 |
amytrophe | ALS2, ANG, ATXN2, DAO, FIG4, FUS, KIF5A, OPTN, PFN1, PON1, ... | ALS2, ANG, ATXN2,DAO, FIG4, FUS, KIF5A, OPTN, PFN1, PON1, ... | 4-8 |
Primäre | PLS | PLS | NULL |
Typ 2 | ALS2 | ALS2 | 1-9 / 100 000 |
- | DTHD1 | DTHD1 | 3-4 |
Typ 1 | GUCY2D | GUCY2D | 4-5 |
Typ 10 | CEP290 | CEP290 | 3-5 |
Typ 11 | IMPDH1 | IMPDH1 | 3-4 |
Typ 12 | RD3 | RD3 | 3-4 |
Typ 13 | RDH12 | RDH12 | 3-4 |
Typ 14 | LRAT | LRAT | 3-4 |
Typ 15 | TULP1 | TULP1 | 3-4 |
Typ 16 | KCNJ13 | KCNJ13 | 3-4 |
Typ 2 | RPE65 | RPE65 | 3-4 |
Typ 3 | SPATA7 | SPATA7 | 3-4 |
Typ 4 | AIPL1 | AIPL1 | 4-6 |
Typ 5 | LCA5 | LCA5 | 3-4 |
Typ 6 | RPGRIP1 | RPGRIP1 | 3-4 |
Typ 6 | RPGRIP1 | RPGRIP1 | 3-4 |
Typ 7 | CRX | CRX | 3-4 |
Typ 7 | GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26) | GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26) | 3-4 |
Typ 8 | CRB1 | CRB1 | 4-5 |
Typ 8 | AIPL1, CRB1, CRX, LCA5, RPE65 | AIPL1, CRB1, CRX, LCA5, RPE65 | 2-4 |
Typ 9 | NMNAT1 | NMNAT1 | 3-4 |
Lebersche Hereditäre Optikusneuropathie | MT-ND1, MT-ND4, MT-ND6 | MT-ND1, MT-ND4, MT-ND6 | 2-4 |
Leigh-Syndrom | SURF1 | SURF1 | 2-4 |
COL4A6 | COL4A6 | 2-4 | |
EL | EL | ||
GABRB3 | GABRB3 | 2-4 | |
Leukenzephalopathie | 4-8 | ||
megalenzephalen, mit subkortikalen Zysten | HEPACAM | HEPACAM | 8-20 |
megalenzephalen, mit subkortikalen Zysten | MLC1 | MLC1 | 8-20 |
mit axonalen Sphäroiden und pigmentierter Glia | CSF1R | CSF1R | 8-20 |
mit Hirnstamm- und Rückenmark | DARS2 | DARS2 | 8-12 |
zystische, ohne Megalenzephalie | RNASET2 | RNASET2 | 8-20 |
CEBPA, cKIT | CEBPA, cKIT | NULL | |
GATA2 | GATA2 | NULL | |
qualitativ | PML-RARA | PML-RARA | 1 |
quantitativ | PML-RARA | PML-RARA | 1-2 |
NGS | ASXL1, CALR, CBL, CSF3R, ETNK1, EZH2, JAK2, KRAS, MPL, NRAS, RUNX1, SETBP1, SRSF2, TET2, U2AF1 | ASXL1, CALR, CBL, CSF3R, ETNK1, EZH2, JAK2, KRAS, MPL, NRAS, RUNX1, SETBP1, SRSF2, TET2, U2AF1 | 2 |
- | DNMT3A | DNMT3A | 2 |
- | NRAS | NRAS | 2 |
NGS | JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53 | JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53 | 2 |
- | TP53 | TP53 | 2 |
LH-Resistenz | LHCGR | LHCGR | 2-4 |
Typ 1 | LIS1/PAFAH1B1 | LIS1/PAFAH1B1 | 4-5 |
Typ 2 | RELN | RELN | 8-12 |
X-chromosomal | DCX | DCX | 8-9 |
TUBA1A | TUBA1A | NULL | |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR2 | TGFBR2 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR2 | TGFBR2 | 3-5 |
LRP5 | LRP5 | 2-3 | |
- | IGH/BCL2 | IGH/BCL2 | 2 |
NGS | BCL2, CREBBP, EP300, EZH2, KMT2D (MLL2), MEF2B, TP53 | BCL2, CREBBP, EP300, EZH2, KMT2D (MLL2), MEF2B, TP53 | 2 |
NGS | DNMT3A, IDH2, RHOA, STAT3, TET2, TP53 | DNMT3A, IDH2, RHOA, STAT3, TET2, TP53 | 2 |
lysinurische Proteinintoleranz | SLC7A7 | SLC7A7 | 2-4 |
- | CDH1 | CDH1 | 4-6 |
Majeed-Syndrom | LPIN2 | LPIN2 | 4-6 |
NULL | |||
Makuladystrophie, vitelliforme | BEST1 | BEST1 | 3-4 |
PLCB1 | PLCB1 | NULL | |
Marfan-Syndrom | FBN1 | FBN1 | 2-4 |
Marfan-Syndrom | FBN1 | FBN1 | 2-4 |
NGS | FBN1, TGFBR1, TGFBR2 | FBN1,TGFBR1,TGFBR2 | 4-6 |
NGS | ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1 | ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1 | 2 |
GNAS | GNAS | 4-6 | |
Medium-chain-Acyl-CoA-Dehydrogenase-Mangel | ACADM | ACADM | 2-4 |
Medium-chain-Acyl-CoA-Dehydrogenase-Mangel | ACADM | ACADM | 2-4 |
AKT3 | AKT3 | NULL | |
4 | CDT1 | CDT1 | NULL |
Meier-Gorlin-Syndrom 1 | ORC1 | ORC1 | 7-8 |
MELAS-Syndrom | MT-TL1 | MT-TL1 | 2-4 |
FLNA | FLNA | 4-6 | |
FLNA | FLNA | 6-8 | |
ATRX | ATRX | NULL | |
AUTS2 | AUTS2 | NULL | |
4-8 | |||
TAOK2 | TAOK2 | ||
TRIO | TRIO | NULL | |
MERRF-Syndrom | MTTK | MTTK | 2-4 |
metachromatische Leukodystrophie | ARSA | ARSA | 4-6 |
Typ Schmid | COL10A1 | COL10A1 | 3-4 |
HIBCH | HIBCH | 2-4 | |
Methionin-Adenosyltransferase-Mangel | MAT1A | MAT1A | 6-8 |
Methylmalonat-Semialdehyd-Dehydrogenase-Mangel | ALDH6A1 | ALDH6A1 | 6-7 |
cbl C | MMACHC | MMACHC | 2-4 |
cbl C | MMACHC | MMACHC | 2-4 |
cbl D | MMADHC | MMADHC | 2-4 |
Methylmalonyl-CoA-Mutase-Mangel | MMUT | MMUT | 6-8 |
Sequenzanalyse MMUT | MMUT | MMUT | 2-4 |
familiäre hemiplegische | ATP1A2, CACNA1A, NOTCH3, SCN1A | ATP1A2, CACNA1A, NOTCH3, SCN1A | 4-8 |
familiäre hemiplegische 1 | CACNA1A | CACNA1A | 4-6 |
familiäre hemiplegische 2 | ATP1A2 | ATP1A2 | 8-10 |
familiäre hemiplegische 3 | SCN1A | SCN1A | 4-5 |
Mikrolissenzephalie | NDE1 | NDE1 | NULL |
SLC25A22 | SLC25A22 | 2-4 | |
LIG4 | LIG4 | 4-6 | |
4-8 | |||
- | CEP63 | CEP63 | 3-5 |
- | IER3IP1 | IER3IP1 | 3-5 |
- | KIF11 | KIF11 | 3-5 |
- | MYO16 | MYO16 | 3-5 |
- | PCNT | PCNT | 3-5 |
- | RBBP8 | RBBP8 | 4-6 |
- | RTTN | RTTN | 3-5 |
- | SLC25A19 | SLC25A19 | 3-5 |
- | TRAPPC9 | TRAPPC9 | 3-5 |
- | TUBB2B | TUBB2B | 3-5 |
MCPH1 | MCPH1 | MCPH1 | 3-5 |
MCPH2 | WDR62 | WDR62 | 3-5 |
MCPH3 | CDK5RAP2 | CDK5RAP2 | 3-5 |
MCPH4 | CASC5 | CASC5 | 3-5 |
MCPH4, MCPH9 | CEP152 | CEP152 | 3-5 |
MCPH5 | ASPM | ASPM | 3-5 |
MCPH6 | CENPJ | CENPJ | 3-5 |
MCPH8 | CEP135 | CEP135 | 5-7 |
Seckel syndrome | ATR | ATR | 3-5 |
- | PLK4 | PLK4 | 2-4 |
LMNB1 | LMNB1 | ||
SPATA5 | SPATA5 | NULL | |
QARS | QARS | NULL | |
mitochondrialer trifunktionaler Protein-Mangel | HADHB | HADHB | 4-8 |
FBXL4 | FBXL4 | NULL | |
MNGIE-Syndrom | TYMP, POLG, MGME1, RRM2B | TYMP, POLG, MGME1, RRM2B | 4-6 |
MNGIE-Syndrom | TYMP | TYMP | 2-4 |
4-8 | |||
Typ A | MOCS1 | MOCS1 | 9-10 |
Typ B | MOCS2 | MOCS2 | 9-10 |
Typ C | GPHN | GPHN | 4-8 |
KRT86 | KRT86 | 4-8 | |
Morbus Darier | ATP2A2 | ATP2A2 | 4-6 |
Morbus Krabbe | GALC | GALC | 6-10 |
NGS | ACVRL1, ENG, SMAD4, GDF2 | ACVRL1, ENG, SMAD4, GDF2 | 4-6 |
Typ 1 | ENG | ENG | 4-6 |
Typ 1,2 | ENG, ACVRL1 | ENG, ACVRL1 | 2-3 |
Typ 2 | ACVRL1 | ACVRL1 | 4-6 |
Typ 5 | GDF2 | GDF2 | 4-6 |
Morbus Wilson | ATP7B | ATP7B | 2-4 |
Morbus Wilson | ATP7B | ATP7B | 2-4 |
NGS | ATP7B | ATP7B | 2-4 |
NULL | |||
Mowat-Wilson-Syndrom | ZEB2/ZFHX1B | ZEB2/ZFHX1B | 5-6 |
Muenke-Syndrom | FGFR3 | FGFR3 | 1-2 |
multi-drug-Resistenz | ABCB1/MDR1 | ABCB1/MDR1 | 2-3 |
PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS | PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS | 2-4 | |
NGS | BRAF, DIS3, FAM46C, KRAS, NRAS, TP53 | BRAF, DIS3, FAM46C, KRAS, NRAS, TP53 | 2 |
multiples Pterygium-Syndrom | CHRNG | CHRNG | 4-6 |
Muskel-Augen-Gehirn-Krankheit | POMGNT1 | POMGNT1 | 5-6 |
RAPSN | RAPSN | NULL | |
kongenitales | CHRND | CHRND | 5-6 |
MUSK | MUSK | NULL | |
NGS | ASXL1, CBL, EZH2, ETNK1, IDH2, JAK2, KIT, SETBP1, SF3B1, TET2 | ASXL1,CBL, EZH2, ETNK1, IDH2, JAK2, KIT, SETBP1, SF3B1, TET2 | 2 |
- | AMH | AMH | 2-3 |
- | AMHR2 | AMHR2 | 2-3 |
- | AMH, AMHR2 | AMH,AMHR2 | 3-4 |
NGS | PDGFRB, NOTCH3 | PDGFRB, NOTCH3 | 4-8 |
rekurrente, genetisch bedingte | LPIN1 | LPIN1 | 2-4 |
juvenile | CACNA1A | CACNA1A | 34-35 |
juvenile | CACNA2D2 | CACNA2D2 | 8-12 |
CLCN2 | CLCN2 | NULL | |
SGCA, SGCB, SGCD, SGCG und FKRP | SGCA, SGCB, SGCD, SGCG und FKRP | 4-6 | |
4-6 | |||
4-6 | |||
SGCA, SGCB, SGCD, SGCG und FKRP | SGCA, SGCB, SGCD, SGCG und FKRP | ||
SEPN1 | SEPN1 | 3-4 | |
distale | ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP | ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM | 4-8 |
metabolische | AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere | AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere | 4-8 |
NGS | verschiedene Gene für MYOP | verschiedene Gene für MYOP | 4-8 |
Becker, Thomsen | CLCN1 | CLCN1 | 2-4 |
Becker, Thomsen | CLCN1 | CLCN1 | 2-4 |
X-linked | MTM1 | MTM1 | 3-4 |
N-Acetylglutamat-Synthetase-Mangel | NAGS | NAGS | 2-4 |
N-Acetyltransferase 2-Mangel | NAT2 | NAT2 | 2-3 |
NACC1 | NACC1 | NULL | |
ANKLE2 | ANKLE2 | NULL | |
DCHS2 | DCHS2 | NULL | |
DNAJB9 | DNAJB9 | NULL | |
NRK | NRK | NULL | |
PIP5K1A | PIP5K1A | NULL | |
PLEKHG4 | PLEKHG4 | NULL | |
PRDM9 | PRDM9 | NULL | |
SRSF5 | SRSF5 | NULL | |
TOE1 | TOE1 | NULL | |
DNAJC3 | DNAJC3 | NULL | |
NGS | diverse Gene | diverse Gene | 4-8 |
autosomal dominant 2 | PDE6B | PDE6B | 4-6 |
Autosomal dominant, Typ 1 | RHO | RHO | 4-6 |
Autosomal dominant, Typ 3 | GNAT1 | GNAT1 | 4-6 |
autosomal-rezessiv, Typ 1B | GRM6 | GRM6 | 4-5 |
autosomal-rezessiv, Typ 1C | TRPM1 | TRPM1 | 4-5 |
autosomal-rezessiv, Typ 1E | GPR179 | GPR179 | 4-5 |
autosomal-rezessiv, Typ 1F | LRIT3 | LRIT3 | 3-4 |
autosomal-rezessiv, Typ 2B | CABP4 | CABP4 | 4-5 |
Typ 1D | SLC24A1 | SLC24A1 | 3-4 |
X-chromosomal, Typ 1A | NYX | NYX | 3-4 |
X-chromosomal, Typ 2A | CACNA1F | CACNA1F | 4-5 |
Nagel-Patella-Syndrom | LMX1B | LMX1B | 3-4 |
Nagel-Patella-Syndrom | LMX1B | LMX1B | 2-3 |
NULL | |||
Natrium-Diarrhoe, kongenitale | SPINT2 | SPINT2 | NULL |
- | KLHL41 | KLHL41 | 4-6 |
Typ Amish | TNNT1 | TNNT1 | 4-5 |
NPHP1 | NPHP1 | NPHP1 | 2-5 |
NPHP1 | NPHP1 | NPHP1 | 2-3 |
Netherton-Syndrom | SPINK5 | SPINK5 | 4-5 |
APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR | APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR | 4-6 | |
4-8 | |||
Typ 2 | 4-8 | ||
GNAO1 | GNAO1 | ||
Typ Fiskerstrand | ABHD12 | ABHD12 | 3-4 |
kongenital schwere 3 | HAX1 | HAX1 | 4-6 |
kongenital schwere 6 | JAGN1 | JAGN1 | 4-8 |
kongenitale schwere 1 | ELANE/ELA2 | ELANE/ELA2 | 2-4 |
somatische Mutationen | CSF3R, TP53 | CSF3R, TP53 | 2 |
X-chromosomal | WAS | WAS | 4-8 |
NGS | CSF3R, SETBP1, ASXL1 | CSF3R, SETBP1, ASXL1 | 2 |
NFE2L3 | NFE2L3 | NULL | |
NULL | |||
1-2 | |||
nicht-ketotische Hyperglycinämie | GCSH | GCSH | 3-4 |
NGS | 4-8 | ||
pappilär | MET | MET | 2-4 |
NGS | BAP1, FH, FLCN, MET, MITF, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL | BAP1, FH, FLCN, MET, MITF, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL | 4-6 Wochen |
Nijmegen-Chromosomenbruch-Syndrom | NBN | NBN | 4-5 |
Nijmegen-Chromosomenbruch-Syndrom | NBN | NBN | 4-5 |
NBN | NBN | 2-4 Wochen | |
NGS | NF1, NF2, CBL, NRAS, KRAS, PTPN11 | NF1, NF2, CBL, NRAS, KRAS, PTPN11 | 4-6 |
NDP | NDP | 2-4 | |
verschiedene Gene für NYS | verschiedene Gene für NYS | 4-8 | |
Typ 1 | FRMD7 | FRMD7 | 2-4 |
Typ 1 | FRMD7 | FRMD7 | 2-4 |
Typ 6 | GPR143 | GPR143 | 2-4 |
LRIG2 | LRIG2 | NULL | |
Okihiro-Syndrom | SALL4 | SALL4 | 4-6 |
Ornithintranscarbamylase-Mangel | OTC | OTC | 5-8 |
Ornithintranscarbamylase-Mangel | OTC | OTC | 3-4 |
NGS | COL1A1, COL1A2, CRTAP, FKBP10, LEPRE1, PPIB, SERPINF1, .. | COL1A1,COL1A2,CRTAP,FKBP10,LEPRE1,PPIB,SERPINF1,.. | 4-8 |
Typ 12 | SP7 | SP7 | 4-8 |
NGS | LMNA, MAFB, MMP14, MMP2, NOTCH2, TNFRSF11A, TREM2, TYROBP, ZMPSTE24 | LMNA, MAFB, MMP14, MMP2, NOTCH2, TNFRSF11A, TREM2, TYROBP, ZMPSTE24 | 4-6 |
Typ 2, 4 | CLCN7 | CLCN7 | 5-6 |
Typ 1 | TCIRG1 | TCIRG1 | 5-6 |
Typ 2 | TNFSF11 | TNFSF11 | 5-6 |
Typ 5 | OSTM1 | OSTM1 | 5-6 |
Typ 7 | TNFRSF11A | TNFRSF11A | 5-6 |
X-chromosomal | PLS3 | PLS3 | 4-8 |
LRP5 | LRP5 | 3-4 | |
FLNA | FLNA | NULL | |
2 | KRT17 | KRT17 | 4-8 |
NGS | KRT16, KRT17, KRT6A, KRT6B, KRT6C | KRT16, KRT17, KRT6A, KRT6B, KRT6C | 4-8 |
NGS | BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11 | BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11 | 4-8 |
- | CDKN2A | CDKN2A | 3-4 |
Pankreatische Colipase-Mangel | PNLIP | PNLIP | 2-4 |
PRSS1, SPINK1, CTRC | PRSS1, SPINK1, CTRC | 2-4 | |
Pankreatitis, hereditär | CFTR | CFTR | 1-3 |
Pankreatitis, hereditär | CFTR | CFTR | 1-3 |
Pankreatitis, hereditär | PRSS1 | PRSS1 | 3-4 |
Pankreatitis, hereditär | SPINK1 | SPINK1 | 3-4 |
SCN4A | SCN4A | 3-5 | |
PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1 | PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1 | 2-3 | |
17 | VPS35 | VPS35 | 4-8 |
23 | VPS13C | VPS13C | 4-8 |
frühkindlich hypotonisch | SLC18A2 | SLC18A2 | 4-8 |
Parkinson-Krankheit | LRRK2 | LRRK2 | 4-8 |
Parkinson-Krankheit | diverse | diverse | 4-8 |
Parkinson-Krankheit | PINK1 | PINK1 | 4-8 |
Parkinson-Krankheit | PINK1 | PINK1 | 4-8 |
Parkinson-Krankheit 1,4 | SNCA | SNCA | 4-8 |
Typ 2 | PRKN | PRKN | 4-8 |
paroxysmale nächtliche Hämoglobinurie | PIGA | PIGA | 2-4 |
paroxysmale nächtliche Hämoglobinurie | PIGA, PIGT | PIGA,PIGT | 2-4 |
partielle Chromosom Y-Deletion, AZF-Faktor | USP9Y | USP9Y | 2-4 |
Parvovirus B19 | 1-2 | ||
Peeling-Skin-Syndrom | TGM5 | TGM5 | 5-7 |
PLP1 | PLP1 | 2-3 | |
PLP1 | PLP1 | 2-3 | |
Pelizaeus-Merzbacher-ähnliche Krankheit | AIMP1 | AIMP1 | 5-7 |
Pelizaeus-Merzbacher-ähnliche Krankheit | GJC2 | GJC2 | 4-5 |
Pelizaeus-Merzbacher-ähnliche Krankheit | HSPD1 | HSPD1 | 4-5 |
Pendred-Syndrom | FOXI1, KCNJ10, SLC26A4 | FOXI1, KCNJ10, SLC26A4 | 15-16 |
CLPP; HARS2, HSD27B4, LARS2 | CLPP; HARS2, HSD27B4, LARS2 | 4-8 | |
Autosomal-rezessiv | HARS2 | HARS2 | 2-4 |
Autosomal-rezessiv | HSD17B4 | HSD17B4 | 3-4 |
Typ 3 | CLPP | CLPP | 3-4 |
Typ 4 | LARS2 | LARS2 | 3-4 |
ATOH7 | ATOH7 | 2-4 | |
- | PAX6 | PAX6 | 2-4 |
- | PITX2 | PITX2 | 2-4 |
B3GLCT | B3GLCT | 2-4 | |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 4-8 |
- | FGFR1 | FGFR1 | 1-2 |
- | FGFR1 | FGFR1 | 3-4 |
- | FGFR2 | FGFR2 | 1-2 |
- | FGFR2 | FGFR2 | 3-4 |
- | KIT | KIT | 3 |
Piebaldismus | SNAI2 | SNAI2 | 3-4 |
Piebaldismus | SNAI2 | SNAI2 | 3-4 |
Pierson-Syndrom | LAMB2 | LAMB2 | 2-4 |
RUNX1 | RUNX1 | ||
RUNX1, GATA2, TERC, TERT, CEBPA | RUNX1,GATA2,TERC,TERT,CEBPA | 2-4 Wochen | |
IQCE | IQCE | ||
AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 | AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 | NULL | |
autoimmun, Typ 1 | AIRE | AIRE | 2 - 4 |
autoimmun, Typ 1 | 2 - 4 | ||
STRADA | STRADA | NULL | |
POLD1 | POLD1 | ||
- | SMAD4 | SMAD4 | 4-8 |
- | SMAD4 | SMAD4 | 4-8 |
- | ALG8 | ALG8 | 3-4 |
- | GANAB | GANAB | 3-4 |
- | PRKCSH | PRKCSH | 3-4 |
- | SEC63 | SEC63 | 3-4 |
Typ 2C | TSEN34 | TSEN34 | NULL |
Porenzephalie 1 | COL4A1 | COL4A1 | 6-8 |
Porenzephalie 2 | COL4A2 | COL4A2 | 4-8 |
Porphyria variegata | PPOX | PPOX | 8-20 |
akute intermittierende | HMBS | HMBS | 8-20 |
SNRPN | SNRPN | 2-4 | |
PDE11A | PDE11A | 2-4 | |
4-8 | |||
Typ 1 | ATP8B1 | ATP8B1 | 2-4 |
Typ 2 | ABCB11 | ABCB11 | 2-4 |
Typ 3 | ABCB4 | ABCB4 | 2-4 |
Typ 3 | ABCB4 | ABCB4 | 2-4 |
Typ 4 | TJP2 | TJP2 | 2-4 |
NGS | AIP, DICER, MEN1, SDHB | AIP, DICER, MEN1, SDHB | 4-6 |
Protein-C-Rezeptor-Mangel | PROCR | PROCR | 3-4 |
NGS | AKT1, PIK3CA, PTEN | AKT1, PIK3CA, PTEN | 4-6 |
AKT1 | AKT1 | 3-4 | |
Pseudoachondroplasie | COMP | COMP | 2-4 |
GNAS | GNAS | 2-4 | |
Pseudoxanthoma elasticum | ABCC6 | ABCC6 | NULL |
Pseudoxanthoma elasticum | ABCC6 | ABCC6 | 2-4 |
Pyruvat-Carboxylase-Mangel | PC | PC | 2-4 |
PHYH | PHYH | 4-6 | |
NLRP7/NALP7, KHDC3L, MEI1, C11orf80 | NLRP7/NALP7, KHDC3L, MEI1, C11orf80 | ||
NULL | |||
NGS | 4-6 | ||
restriktive Dermopathie | ZMPSTE24 | ZMPSTE24 | 6-8 |
SMARCB1 | SMARCB1 | 2-3 Wochen | |
Roberts-Syndrom | ESCO2 | ESCO2 | 2-4 |
autosomal-dominant | DVL1 | DVL1 | 4-6 |
autosomal-dominant | WNT5A | WNT5A | 2-4 |
autosomal-rezessiv | ROR2 | ROR2 | 2-4 |
autosomal-rezessiv | ROR2 | ROR2 | 2-3 |
Schilddrüsen-Dyshormonogenese | TPO | TPO | 2-4 |
DUOX2 | DUOX2 | 2-4 | |
NGS | DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1 | DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2 | 4-8 |
TPO, PAX8, FOXE1, NKX2-1, TSHR | TPO, PAX8, FOXE1, NKX2-1, TSHR | 2-4 | |
NULL | |||
sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel | ACADVL | ACADVL | 2-4 |
ASXL2 | ASXL2 | NULL | |
SHOX-Defizienz | SHOX | SHOX | 2-4 |
SHOX-Defizienz | SHOX | SHOX | 2-4 |
NEU1 | NEU1 | NULL | |
Sialinsäure-Speicherkrankheit | SLC17A5 | SLC17A5 | 4-6 |
Methylierungsanalyse H19-DMR und KvDMR1 | H19, KCNQ1OT1 | H19,KCNQ1OT1 | 2-4 |
MLPA Analyse UPD(7)mat | GRB10, MEST | GRB10,MEST | 2-4 |
ALDH3A2/FALDH | ALDH3A2/FALDH | 2-4 | |
ALDH3A2/FALDH | ALDH3A2/FALDH | 3-5 | |
NGS | AMER1, ANKH, CA2, CLCN7, COL1A1, CSF1R, CTSK, DHCR24, DLX3, FAM20C, FERMT3, FGF23, GALNT3, GJA1, HPGD, IKBKG, KL, LEMD3, LRP4, LRP5, LRRK1, MAP2K1, MTAP, OSTM1, PLEKHM1, POLR3B, PTDSS1, PTH1R, SFRP4, SLC29A3, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, ..... | AMER1, ANKH, CA2, CLCN7, COL1A1, CSF1R, CTSK, DHCR24, DLX3, FAM20C, FERMT3, FGF23, GALNT3, GJA1, HPG | 4-6 |
NGS | ALPL, ANO5, ATP6V0A2, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DDX58, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MBTPS2, NBAS, NOTCH2, P3H1, P4HB, PLOD2, PLS3, POLR3A, PPIB, PYCR1, SEC24D, SERPINF1, SERPINH1, SGMS2, SP7, SPARC, TENT5A, ........ | ALPL, ANO5, ATP6V0A2, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DDX58, FKBP10, GORAB, | 4-6 |
Typ Charlevoix-Saguenay | SACS | SACS | 14-16 |
Typ 11 | SPG11 | SPG11 | 4-5 |
Typ 17 | BSCL2 | BSCL2 | 4-5 |
Typ 3 | ATL1 | ATL1 | 2-4 |
Typ 3 | ATL1 | ATL1 | 2-3 |
Typ 31 | REEP1 | REEP1 | 3-4 |
Typ 4 | SPAST | SPAST | 2-4 |
Typ 4 | SPAST | SPAST | 2-3 |
Typ 5 | CYP7B1 | CYP7B1 | 3-4 |
Typ 6 | NIPA1 | NIPA1 | NULL |
Typ 7 | SPG7 | SPG7 | 8-12 |
Typ 8 | KIAA0196 | KIAA0196 | NULL |
DDHD2 | DDHD2 | NULL | |
WASHC5 | WASHC5 | NULL | |
PNPLA6 | PNPLA6 | NULL | |
Typ 1 | IGHMBP2 | IGHMBP2 | 3-4 |
Typ 1, 2, 3, 4 | SMN1 | SMN1 | 3-4 |
Typ 1, 2, 3, 4 | SMN1 | SMN1 | 10-14 |
Typ 3 | SMN2 | SMN2 | 2-3 |
Typ trada | TRAPPC2 | TRAPPC2 | 2-4 |
kongenitaler Typ | COL2A1 | COL2A1 | 4-6 |
kongenitaler Typ | COL2A1 | COL2A1 | 4-6 |
kongenitaler Typ | COL2A1 | COL2A1 | 2-3 |
MATN3 | MATN3 | NULL | |
Stargardt-ähnliche Makuladystrophie | IMPG1 | IMPG1 | 2-4 |
COL27A1 | COL27A1 | NULL | |
Sterilität, CBAVD | CFTR | CFTR | 3-4 |
Sterilität, CBAVD | CFTR | CFTR | 3-4 |
Steroid-5-alpha-Reduktase-2-Mangel | SRD5A2 | SRD5A2 | 2-4 |
COL11A1 | COL11A1 | 2-4 | |
NGS | verschiedene Gene für STICK | verschiedene Gene für STICK | 4-8 |
Typ 1 | COL2A1 | COL2A1 | 4-6 |
Typ 1 | COL2A1 | COL2A1 | 4-6 |
Typ 1 | COL2A1 | COL2A1 | 2-3 |
Typ 2 | COL11A1 | COL11A1 | 4-6 |
Typ 2 | COL11A1 | COL11A1 | 2-4 |
Stuve-Wiedemann-Syndrom | LIFR | LIFR | 6-8 |
Störungen der Geschlechtsentwicklung | NR5A1 | NR5A1 | 2-4 |
WNT9B | WNT9B | 2-4 | |
Surfactant-Protein-Defizienz | SFTPC | SFTPC | 3-4 |
Surfactant-Protein-Defizienz | ABCA3 | ABCA3 | 3-4 |
Surfactant-Protein-Defizienz | ABCA3, SFTPC | ABCA3, SFTPC | 2-4 |
Surfactant-Protein-Defizienz | SFTPB | SFTPB | 3-4 |
Surfactant-Protein-Defizienz | SFTPB | SFTPB | 2-3 |
NGS | ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC | ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC | 6-8 |
NULL | |||
proximaler | GDF5 | GDF5 | 3-4 |
proximaler | NOG | NOG | 1-3 |
autoimmun-lymphoproliferatives Typ 2 | CASP10 | CASP10 | 2-4 |
MED13 | MED13 | ||
NGS | diverse Gene | diverse Gene | 4-8 |
NGS | CISD2, DCAF17, DNAJC3, EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, IER3IP1, MT-TL1, PAX6, RFX6, SLC19A2, SLC29A3, STAT3, TRMT10A, WFS1 | CISD2, DCAF17, DNAJC3, EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, IER3IP1, MT-TL1, PAX6, RFX6, SLC19A2, SL | 4-8 |
systemische juvenile rheumatoide Arthritis | IL6 | IL6 | 1-2 |
systemische juvenile rheumatoide Arthritis | IL6 | IL6 | 1-2 |
T-Zell-Rezeptor-gamma-Rearrangement | TCRG | TCRG | 2-3 |
RBM10 | RBM10 | 3-4 | |
AR | AR | 2-4 | |
HBA1, HBA2, HBB | HBA1, HBA2, HBB | 2-4 | |
Alpha | HBA1, HBA2 | HBA1, HBA2 | 2-4 |
Alpha | HBA1, HBA2 | HBA1, HBA2 | 2-4 |
Beta | HBB | HBB | 2-4 |
Beta | HBB | HBB | 2-4 |
HPFH | HBG1, HBG2 | HBG1, HBG2 | 3-4 |
SLC19A2 | SLC19A2 | 2-4 | |
Thrombotisch-thrombozytopenische Purpura | ADAMTS13 | ADAMTS13 | 2-4 |
MITF | MITF | 3-4 | |
Transaldolase-Mangel | TALDO1 | TALDO1 | 6-8 |
Treacher-Collins-Syndrom | POLR1C | POLR1C | 3-4 |
Treacher-Collins-Syndrom | POLR1D | POLR1D | 3-4 |
Treacher-Collins-Syndrom | TCOF1 | TCOF1 | 6-8 |
Treacher-Collins-Syndrom | TCOF1 | TCOF1 | 2-3 |
MLPA | TRPS1 | TRPS1 | 2-4 |
Trimethylaminurie | FMO3 | FMO3 | 2-4 |
TSC1, TSC2 | TSC1,TSC2 | 2-3 | |
Typ 1 | TSC1 | TSC1 | 3-4 |
Typ 2 | TSC2 | TSC2 | 4-5 |
2-3 | |||
Tumor-Prädispositionssyndrom | BAP1 | BAP1 | 2-4 |
Tumor-Prädispositionssyndrom | BAP1 | BAP1 | 2-4 |
Typ 1 | FAH | FAH | 4-6 |
KCNB1 | KCNB1 | NULL | |
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
CSTB | CSTB | 3-4 | |
Unverricht Lundborg Epilepsie | CSTB | CSTB | 4-5 |
NGS | divers | divers | 4-8 |
Typ 1B | MYO7A | MYO7A | 2-4 |
Typ 1C | USH1C | USH1C | 2-4 |
Typ 1D | CDH23 | CDH23 | 2-4 |
Typ 1F | PCDH15 | PCDH15 | 2-4 |
Typ 1F | PCDH15 | PCDH15 | 2-4 |
Typ 1G | USH1G | USH1G | 2-4 |
Typ 1J | CIB2 | CIB2 | 2-4 |
Typ 2 D | DFNB31 | DFNB31 | 2-4 |
Typ 2A | USH2A | USH2A | 2-4 |
Typ 2A | USH2A | USH2A | 2-4 |
Typ 2C | GPR98/ADGRV1 | GPR98/ADGRV1 | 2-4 |
Typ 3A | USH3A | USH3A | 2-3 |
Typ 3B | HARS | HARS | 2-4 |
Typ 48 | CIB2 | CIB2 | 3-4 |
Van-der-Woude-Syndrom | IRF6 | IRF6 | 4-6 |
Vitamin-E-abhängige Ataxie | TTPA | TTPA | 5-6 |
GHRHR | GHRHR | 2-4 | |
GH1 | GH1 | 2-4 | |
VCAN | VCAN | NULL | |
- | WT1 | WT1 | 3-4 |
B3GALNT2 | B3GALNT2 | NULL | |
ISPD | ISPD | NULL | |
4-8 | |||
POMT1 | POMT1 | NULL | |
POMT2 | POMT2 | 3-4 | |
TMEM5 | TMEM5 | NULL | |
WARS | WARS | NULL | |
Wiedemann-Steiner-Syndrom | KMT2A/MLL1 | KMT2A/MLL1 | 4-6 |
NULL | |||
Williams Beuren Syndrom | CLIP2, ELN, LIMK | CLIP2, ELN, LIMK | 3-4 |
Typ 2 | CISD2 | CISD2 | 2-4 |
WWP2 | WWP2 | ||
4-8 | |||
X-chromosomales Hyper-IgM-Syndrom | CD40LG, CD40, UNG, AICDA | CD40LG, CD40, UNG, AICDA | 5-6 Wochen |
4-6 | |||
Typ 1 | XDH | XDH | 2-4 |
primäre | PTH1R | PTH1R | 4-6 |
diverse | diverse | 4-8 | |
X-gekoppelt | ORF15, RPGR | ORF15, RPGR | 4-8 |
zerebraler cavernöse Fehlbildungen | KRIT1, CCM2, PDCD10 | KRIT1, CCM2, PDCD10 | 4-8 |
PKD1, PKD2, DNAJB11, GANAB, ALG9 | PKD1,PKD2,DNAJB11,GANAB,ALG9 | 12-18 | |
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
NULL | |||
NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8 | NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8 | 4-8 | |
NULL | |||
NULL | |||
NGS | 4-8 | ||
Renal tubuläre Dysgenesie | 12 | ||
8-12 | |||
SLC30A2 | SLC30A2 | 4-6 | |
ALG9 | ALG9 | 2-4 | |
MERRF-Syndrom* | |||
ATAD3B | ATAD3B | 2-4 | |
CDK13 | CDK13 | NULL | |
CTBP1 | CTBP1 | NULL | |
PCDH12 | PCDH12 | NULL | |
PCM1 | PCM1 | ||
PTCHD1 | PTCHD1 | NULL | |
RASA1 | RASA1 | ||
RREB1 | RREB1 | NULL | |
SH3TC1 | SH3TC1 | 3-4 | |
SHANK2 | SHANK2 | NULL | |
TANC2 | TANC2 | 2-4 | |
WDR91 | WDR91 | NULL | |
HMGCL | HMGCL | 2-4 | |
3-Methyl-Crotonyl-CoA-Carboxylase-1-Mangel | MCCC1 | MCCC1 | 2-4 |
Aarskog-Syndrom | FGD1 | FGD1 | 2-4 |
Aarskog-Syndrom | FGD1 | FGD1 | 4-6 |
Abetalipoproteinämie | MTP | MTP | 4-6 |
Typ 1B | SLC26A2 | SLC26A2 | 3-4 |
Typ 2 | COL2A1 | COL2A1 | 4-6 |
Typ 2 | COL2A1 | COL2A1 | 4-6 |
Typ 2 | COL2A1 | COL2A1 | 2-3 |
GLI3, KIF7 | GLI3, KIF7 | NULL | |
ACTH-Mangel | TBX19 | TBX19 | 2-4 |
ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ | ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ | 4-8 | |
ADSL | ADSL | 6-10 | |
KSR2 | KSR2 | 2-4 | |
DYRK1B | DYRK1B | 2-4 | |
- | LEP | LEP | 2-4 |
- | LEPR | LEPR | 2-4 |
- | MC3R | MC3R | 2-4 |
- | MC4R | MC4R | 2-4 |
- | PCSK1 | PCSK1 | 2-4 |
- | POMC | POMC | 2-4 |
MLPA | LEPR, MC4R, POMC, LEP, MC2R | LEPR, MC4R, POMC, LEP, MC2R | 2-4 |
NGS | BBS1, BBS10, DYRK1B, KSR2, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, PPARG, SIM1, UCP3 | BBS1,BBS10,DYRK1B,KSR2,LEP,LEPR,MC3R,MC4R,NR0B2,NTRK2,PCSK1,POMC,PPARG,SIM1,UCP3 | 4-6 |
ADPKD | PKD1, PKD2 | PKD1, PKD2 | 2-4 |
Agammaglobulinämie | IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 | IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 | 4-6 |
X-chromosomal 1 | BTK | BTK | 2-4 |
NGS | BCKDHA, BCKDHB, DBT, DLD | BCKDHA, BCKDHB, DBT, DLD | 4-6 |
Typ 1A | BCKDHA | BCKDHA | 2-4 |
Typ 1B | BCKDHB | BCKDHB | 2-4 |
Typ 2 | DBT | DBT | 2-4 |
NGS | IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR | IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR | 4-8 |
- | COL3A1 | COL3A1 | 2-4 |
verschiedene Gene für ALB | verschiedene Gene für ALB | 4-6 | |
GNAS | GNAS | 2-4 | |
Alexander-Syndrom | GFAP | GFAP | 4-6 |
Alkaptonurie | HGD | HGD | 2-4 |
alpha-1-Antitrypsin-Mangel | SERPINA1 | SERPINA1 | 1-2 |
Alpha-Ketoglutarat-Dehydrogenase-Mangel | OGDH | OGDH | 3-5 |
IGFALS | IGFALS | 2-4 | |
SLC34A2 | SLC34A2 | 2-4 | |
Amyloidpolyneuropathie | TTR | TTR | 2-3 |
Amyloidpolyneuropathie | TTR | TTR | 2-3 |
SIGMAR1 | SIGMAR1 | NULL | |
SEPTIN9 | SEPTIN9 | ||
PIP | PIP | NULL | |
Androgeninsensitivitäts-Syndrom | AR | AR | 2-4 |
Androgeninsensitivitäts-Syndrom | AR | AR | 2-4 |
SNRPN, UBE3A | SNRPN,UBE3A | 2-4 | |
4-8 | |||
Sequenzierung des UBE3A-Gens | UBE3A | UBE3A | 2-4 |
Angiotensin 1 konvertierendes Enzym | ACE | ACE | 1-2 |
ANK3 | ANK3 | ||
RSPO4 | RSPO4 | 3-4 | |
ANXA1-Mutation | ANXA1 | ANXA1 | 3-4 |
familiäres thorakales | ACTA2 | ACTA2 | 4-5 |
familiäres thorakales | MYLK | MYLK | 10-11 |
NGS | BCOR, BCORL1, DNMT3A, PIGA, ASXL1 | BCOR, BCORL1, DNMT3A, PIGA, ASXL1 | 2-3 |
Apparenter Mineralocorticoid-Überschuss | HSD11B2 | HSD11B2 | 2-4 |
kongenitale kontrakturale | FBN2 | FBN2 | 5-6 |
Typ 1 | VPS33B, VIPAS39 | VPS33B,VIPAS39 | 4-6 |
Typ 1 | VPS33B | VPS33B | 2-4 |
Typ 2 | VIPAS39 | VIPAS39 | 2-4 |
KARS | KARS | NULL | |
PTPRQ | PTPRQ | 3-6 | |
PKHD1, DZIP1L, PKD1 | PKHD1, DZIP1L, PKD1 | 15-16 | |
PKHD1 | PKHD1 | 2-4 | |
DZIP1L | DZIP1L | NULL | |
PKHD1L1 | PKHD1L1 | 4-6 | |
familiäre isolierte | RYR2 | RYR2 | 2-4 |
der Kindheit | WISP3 | WISP3 | 2-4 |
ARX-assoziierte Erkrankungen | ARX | ARX | 3-4 |
- | MRE11A | MRE11A | 3-5 |
AFG3L2 | AFG3L2 | NULL | |
Typ 1 | FLNB | FLNB | 2-3 |
Typ 1 | FLNB | FLNB | 2-4 |
Typ 1 | FLNB | FLNB | 2-4 |
Typ 2 | SLC26A2 | SLC26A2 | 3-4 |
Typ 3 | FLNB | FLNB | 2-3 |
Typ 3 | FLNB | FLNB | 3-4 |
Typ 3 | FLNB | FLNB | 5-6 |
NLGN1 | NLGN1 | ||
Typ 1 | PITX2 | PITX2 | 2-4 |
NGS | 4-6 | ||
Methylierungsanalyse H19-DMR und KvDMR1 | H19, KCNQ1OT1 | H19,KCNQ1OT1 | 2-4 |
Sequenzanalyse CDKN1C | CDKN1C | CDKN1C | 4-6 |
Sequenzanalyse CDKN1C | CDKN1C | CDKN1C | 2-4 |
Sequenzanalyse NLRP2 | NLRP2 | NLRP2 | 2-4 |
4-8 | |||
- | GP1BA, GP1BB, G9 | GP1BA, GP1BB, G9 | 4-6 |
Typ C | GP9 | GP9 | 2-4 |
bikuspide Aortenklappe | GATA5, NKX2-5, NOTCH1, SMAD6 | GATA5, NKX2-5, NOTCH1, SMAD6 | 4-6 |
Biotinidase-Mangel | BTD | BTD | 2-4 |
BTD | BTD | NULL | |
- | DICER1 | DICER1 | 4-8 |
- | DICER1 | DICER1 | 4-8 |
Bohring-Opitz-Syndrom | ASXL1 | ASXL1 | 2-4 |
FLNB | FLNB | 2-3 | |
FLNB | FLNB | 3-4 | |
FLNB | FLNB | 5-6 | |
IHH | IHH | 2-4 | |
Brown-Vialetto-van Laere-Syndrom | SLC52A3 | SLC52A3 | 2-4 |
Brown-Vialetto-van Laere-Syndrom | SLC52A2 | SLC52A2 | 2-4 |
BARD1 | BARD1 | 2-3 | |
BRIP1 | BRIP1 | 2-3 | |
- | ATM | ATM | 4-5 |
- | ATM | ATM | 4-6 |
- | BARD1 | BARD1 | 4-8 |
- | BRCA1, BRCA2 | BRCA1, BRCA2 | 4-8 |
- | BRCA1 | BRCA1 | 4-6 |
- | BRCA1 | BRCA1 | 2-3 |
- | BRCA2 | BRCA2 | 4-6 |
- | BRCA2 | BRCA2 | 2-3 |
- | BRIP1 | BRIP1 | 4-5 |
- | CHEK2 | CHEK2 | 4-6 |
- | CHEK2 | CHEK2 | 4-6 |
- | CHEK2 | CHEK2 | 4-6 |
- | NBN | NBN | 4-5 |
- | PALB2 | PALB2 | 2-4 |
- | RAD51C | RAD51C | 4-5 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
MLPA | PALB2, RAD50, RAD51D | PALB2, RAD50, RAD51D | 2-4 |
RAD50 | RAD50 | ||
TXNL4A | TXNL4A | 2-4 | |
Butyrylcholinesterase-Mangel | BCHE | BCHE | 4-5 |
CACH-Syndrom | EIF2B1 | EIF2B1 | 3-4 |
CACH-Syndrom | EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 | EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 | 6-8 |
CACH-Syndrom | EIF2B2 | EIF2B2 | 4-5 |
CACH-Syndrom | EIF2B3 | EIF2B3 | 4-5 |
CACH-Syndrom | EIF2B4 | EIF2B4 | 4-5 |
CACH-Syndrom | EIF2B5 | EIF2B5 | 4-5 |
Caffey-Krankheit | COL1A1 | COL1A1 | 4-6 |
Caffey-Krankheit | COL1A1 | COL1A1 | 2-3 |
CAMRQ-Syndrom | ATP8A2 | ATP8A2 | 4-6 |
Canavan-Krankheit | ASPA | ASPA | 4-6 |
Typ 1 | PRKAR1A | PRKAR1A | 4-6 |
DSP | DSP | 2-4 | |
neuronale | 4-8 | ||
Typ 1 | PPT1 | PPT1 | 5-6 |
Typ 1, 8, 2, 6, 3 | PPT1, CLN8, TPP1, CLN6, CLN3 | PPT1, CLN8, TPP1, CLN6, CLN3 | 3-4 |
Typ 2 | TPP1 | TPP1 | 10-12 |
Typ 3 | CLN3 | CLN3 | 10-12 |
Typ 3 | CLN3 | CLN3 | 10-12 |
Typ 5 | CLN5 | CLN5 | NULL |
Typ 6 | CLN6 | CLN6 | 3-4 |
Typ 7 | MFSD8 | MFSD8 | 3-4 |
Typ 8 | CLN8 | CLN8 | 3-4 |
NDRG1 | NDRG1 | NULL | |
ERF | ERF | NULL | |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
rhizomele, Typ 1 | PEX7 | PEX7 | 4-6 |
rhizomele, Typ 2 | GNPAT | GNPAT | 4-6 |
rhizomele, Typ 3 | AGPS | AGPS | 4-6 |
Typ 2 | EBP | EBP | 4-8 |
x-chromosomal, brachytelephalangealer Typ | ARSE | ARSE | 4-8 |
metaphysäre, Typ Schmid | COL10A1 | COL10A1 | 2-3 |
Typ Blomstrand | PTH1R | PTH1R | NULL |
Chorea Huntington | HTT | HTT | 4-5 |
- | NKX2-1 | NKX2-1 | 3-4 |
Chorea-Akanthozytose | VPS13A | VPS13A | 7-9 |
Chorioideremie | CHM | CHM | 4-6 |
CHM | CHM | 4-6 | |
NULL | |||
IgVH | IgVH | 2-3 | |
CHST3-assoziierte Skelettdysplasie | CHST3 | CHST3 | 2-4 |
CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2 | CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2 | 4-6 | |
Typ A | ERCC8 | ERCC8 | 3-4 |
Typ B | ERCC6 | ERCC6 | 3-4 |
RPS6KA3 | RPS6KA3 | NULL | |
SMARCE1 | SMARCE1 | ||
4-6 | |||
VPS13B/COH1 | VPS13B/COH1 | 4-6 | |
VPS13B/COH1 | VPS13B/COH1 | 2-3 | |
RAD21 | RAD21 | NULL | |
4-6 | |||
NGS | AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD | AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD | 4-6 |
Typ 1 | PTEN | PTEN | 3-4 |
Typ 1 | PTEN | PTEN | 2-3 |
Typ 1 | PTEN | PTEN | 2-3 |
Typ 2 | SDHB | SDHB | 3-4 |
Typ 3 | SDHD | SDHD | 3-4 |
Typ 4 | KLLN | KLLN | 3-4 |
Typ 5 | PIK3CA | PIK3CA | 3-4 |
Typ 6 | AKT1 | AKT1 | 3-4 |
Typ 7 | SEC23B | SEC23B | 3-4 |
SDHB | SDHB | 3-4 | |
Crigler-Najjar-Syndrom | UGT1A1 | UGT1A1 | 4-5 |
1 | CRLF1 | CRLF1 | 3-4 |
Crouzon-Syndrom | FGFR2 | FGFR2 | 3-4 |
Crouzon-Syndrom mit Akanthose nigricans | FGFR3 | FGFR3 | 3-4 |
Cumarin/Warfarin-Sensitivität | CYP4F2 | CYP4F2 | 2-3 |
Cumarin/Warfarin-Sensitivität | VKORC1 | VKORC1 | 2-3 |
Cystinose | CTNS | CTNS | 2-4 |
Cystinose | CTNS | CTNS | 2-4 |
Typ 1 | SLC3A1 und SLC7A9 | SLC3A1 und SLC7A9 | 2-4 |
Typ 1 | SLC3A1 | SLC3A1 | 2-4 |
Typ 2 und 3 | SLC7A9 | SLC7A9 | 2-4 |
- | CLCN5 | CLCN5 | 2-4 |
- | OCRL/OCRL1 | OCRL/OCRL1 | 2-4 |
NGS | 4-6 | ||
DSPP | DSPP | NULL | |
DES | DES | 2-4 | |
Diabetes insipidus | AVP, AVPR2, AQP2 | AVP, AVPR2, AQP2 | 4-6 |
Diamond-Blackfan-Anämie | GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26 | GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26 | 4-6 |
Diamond-Blackfan-Anämie | RPS19 | RPS19 | 2-4 |
PHIP | PHIP | NULL | |
Dihydropyrimidin-Dehydrogenase-Mangel | DPYD | DPYD | 1 |
FLNC | FLNC | NULL | |
DNAJC6 | DNAJC6 | NULL | |
autosomal-dominant | GCH1 | GCH1 | 2-3 |
autosomal-dominant | GCH1 | GCH1 | 3-4 |
autosomal-rezessives | TH | TH | 2-4 |
autosomal-rezessives | TH | TH | 2-4 |
Dravet Syndrom | GABRG2 | GABRG2 | 3-4 |
ROBO3 | ROBO3 | 2-4 | |
DYM | DYM | 2-4 | |
- | IKBKAP | IKBKAP | 3-4 |
Typ 6 | THAP1 | THAP1 | 4-5 |
4-8 | |||
Eagle-Barret-Syndrom | CHRM3 | CHRM3 | 5-6 |
EGFR | EGFR | NULL | |
COL5A1 | COL5A1 | NULL | |
EMD | EMD | 2-4 | |
breast cancer | 1 | ||
kongenitale, durch Enteropeptidase-Mangel | TMPRSS15/PRSS7 | TMPRSS15/PRSS7 | 2-4 |
TRRAP | TRRAP | ||
ST7 | ST7 | NULL | |
SUOX | SUOX | 3-5 | |
Enzephalopathie, epileptische frühinfantile | SCN2A | SCN2A | 6-8 |
FGFR1 | FGFR1 | NULL | |
- | COL17A1 | COL17A1 | 6-8 |
- | COL7A1, KRT5 | COL7A1, KRT5 | 2-3 |
dystrophe | COL7A1 | COL7A1 | 6-8 |
junktionale | ITGB4 | ITGB4 | 2-4 |
junktionale | LAMA3 | LAMA3 | 4-5 |
junktionale, Typ nicht-Herlitz | LAMB3 | LAMB3 | 3-4 |
NGS | COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5 | COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5 | 4-8 |
Typ Herlitz | LAMC2 | LAMC2 | 3-4 |
HCN1 | HCN1 | ||
NTRK2 | NTRK2 | 4-6 | |
GRIN2B | GRIN2B | NULL | |
SLC6A1 | SLC6A1 | NULL | |
6 | |||
Typ 1 und 3B | KIF21A | KIF21A | 2-4 |
Typ 2 | PHOX2A | PHOX2A | 2-4 |
Typ 3A | TUBB3 | TUBB3 | 4-5 |
NGS | ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ... | ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, | 4-6 |
Faktor 11-Mangel | F11 | F11 | 4-6 |
Faktor12-Mangel | F12 | F12 | 3-5 |
Faktor 13A1-Mangel | F13A1 | F13A1 | 4-6 |
Faktor V-Mangel | F5 | F5 | 3-4 |
familiäre atypische Mykobakteriose | IFNGR1 | IFNGR1 | NULL |
ADCY5 | ADCY5 | NULL | |
FANCA | FANCA | ||
3 | |||
FA2H | FA2H | 3-4 | |
FGFR3 | FGFR3 | 3-4 | |
Fibula-Aplasie und komplexe Brachydaktylie | GDF5 | GDF5 | 2-4 |
Frank-Ter Haar Syndrom | SH3PXD2B | SH3PXD2B | 6-8 |
AFF2 | AFF2 | NULL | |
ALDOB | ALDOB | ||
Fruktoseintoleranz, hereditär | ALDOB | ALDOB | 2-4 |
SZT2 | SZT2 | NULL | |
1 | |||
juveniler Typ | CTSA | CTSA | 2-4 |
SOX3 | SOX3 | 2-4 | |
Typ 1 | ENPP1 | ENPP1 | 2-4 |
generalisierten pustulösen Psoriasis | IL36RN | IL36RN | 3-4 |
SRY | SRY | 2-4 | |
NR5A1 | NR5A1 | 2-4 | |
- | AMXY | AMXY | 3-4 |
- | SRY | SRY | 2-4 |
Gonadendysgenesie | NR0B1 | NR0B1 | 2-4 |
Gonadendysgenesie | NR0B1 | NR0B1 | 2-4 |
Typ 1A | MYOT | MYOT | 2-4 |
Typ 2A | CAPN3 | CAPN3 | 2-4 |
Typ 2B | DYSF | DYSF | 2-4 |
Typ 2C | SGCG | SGCG | 2-4 |
Typ 2D | SGCA | SGCA | 2-4 |
Typ 2E | SGCB | SGCB | 2-4 |
Typ 2I | FKRP | FKRP | 2-4 |
FKTN | FKTN | 2-4 | |
APOL1 | APOL1 | 3-4 | |
4-6 | |||
Fruktose 1,6 Bisphosphatase-Mangel | FBP1 | FBP1 | 2-4 |
Fruktose 1,6 Bisphosphatase-Mangel | ALDOB, FBP1 | ALDOB, FBP1 | 2-4 |
Glucose-6-Phosphat-Dehydrogenase-Defizienz | G6PD | G6PD | 4-6 |
SLC2A1 | SLC2A1 | 3-4 | |
SLC2A1 | SLC2A1 | 3-4 | |
GSTM1, GSTP1, GSTT1 | GSTM1, GSTP1, GSTT1 | 2-3 | |
Typ 0 | GYS2 | GYS2 | 2-4 |
Typ 1B/1C | SLC37A4/G6PT1 | SLC37A4/G6PT1 | 2-4 |
Typ 2 | GAA | GAA | 2-4 |
Typ 2 | GAA | GAA | 2-4 |
Typ 3b | AGL | AGL | 2-4 |
Typ 4 | GBE1 | GBE1 | 2-4 |
Typ 5 | PYGM | PYGM | 2-4 |
Typ 6 | PYGL | PYGL | 2-4 |
Typ 7 | PFKM | PFKM | 2-4 |
Typ 9A | PHKA2 | PHKA2 | 2-4 |
Typ 9B | PHKB | PHKB | 2-4 |
NGS | AGL, FBP1, G6PC, GAA, GBE1, PHKA2, PHKB, PHKG2, PYGM, SLC2A2, SLC37A4, ALDOA, ENO3, EPM2A, FBP2, GYG1, GYG2, GYS1, GYS2, LAMP2, LDHA, LDHB, NHLRC1, PFKL, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKG1, PRKAG2, PRKAG3, PYGL | AGL,FBP1,G6PC,GAA,GBE1,PHKA2,PHKB,PHKG2,PYGM,SLC2A2,SLC37A4,ALDOA,ENO3,EPM2A,FBP2,GYG1,GYG2,GYS1,GYS | 4-8 |
Typ 11 | SLC2A2 | SLC2A2 | 2-4 |
Typ 1A | G6PC1/G6PC | G6PC1/G6PC | 2-4 |
Typ 1-3 | GLB1 | GLB1 | 14-16 |
PTCH1 | PTCH1 | ||
Gray-platelet-Syndrom | NBEAL2 | NBEAL2 | 8-10 |
GLI3 | GLI3 | 2-3 | |
GRIN1 | GRIN1 | NULL | |
X-Chromosomal | POU3F4 | POU3F4 | 2-4 |
- | BRAF | BRAF | 2 |
NGS | BRAF, KLF2, CDKN1B | BRAF, KLF2, CDKN1B | 2 |
GATA3 | GATA3 | NULL | |
GATA3 | GATA3 | NULL | |
HECW2 | HECW2 | NULL | |
Prognosemarker | IL-28B | IL-28B | 2-3 |
NGS | ABCB11, AGL, APC, CDKN2A, FAH, G6PC, HMBS, PPOX, PRKAR1A, SPRTN, BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2 | ABCB11, AGL, APC, CDKN2A, FAH, G6PC, HMBS, PPOX, PRKAR1A, SPRTN, BRCA2, BRIP1, FANCA, FANCB, FANCC, | 4-8 |
PMP22 | PMP22 | 3-4 | |
PMP22 | PMP22 | 3-4 | |
DNMT1 | DNMT1 | NULL | |
KCNN4, PIEZO1, SLC4A1, RHAG, RHCE, RHD, ABCB6 und SLC2A1 | KCNN4, PIEZO1, SLC4A1, RHAG, RHCE, RHD, ABCB6 und SLC2A1 | ||
verschiedene Gene für HPS | verschiedene Gene für HPS | 4-8 | |
Typ 1 | HPS1 | HPS1 | 2-4 |
Typ 3 | HPS3 | HPS3 | 2-4 |
Typ 5 | HPS5 | HPS5 | 2-4 |
Typ 6 | HPS6 | HPS6 | 2-4 |
Typ 8 | BLOC1S3 | BLOC1S3 | 2-4 |
MED13L | MED13L | NULL | |
verschiedene Gene | verschiedene Gene | NULL | |
- | EDN3 | EDN3 | 3-4 |
- | EDNRB | EDNRB | 3-4 |
Histaminintoleranz | ABP1 | ABP1 | 4-6 |
Histaminintoleranz | HNMT | HNMT | 4-5 |
HIV-1-Wirtsresistenz | CCR5 | CCR5 | 2-3 |
4-6 | |||
Holoprosenzephalie | GLI2 | GLI2 | 7-8 |
Holoprosenzephalie | PTCH1 | PTCH1 | 4-6 |
Holoprosenzephalie | SHH | SHH | 4-6 |
Holoprosenzephalie | SIX3 | SIX3 | 8-9 |
Holoprosenzephalie | TGIF | TGIF | 7-8 |
Holoprosenzephalie | ZIC2 | ZIC2 | 8-10 |
Holt-Oram-Syndrom | TBX5 | TBX5 | 2-4 |
Holt-Oram-Syndrom | TBX5 | TBX5 | 2-4 |
Homocysteinämie | CBS | CBS | 4-6 |
- | DCN | DCN | 2-4 |
- | SLC4A11 | SLC4A11 | 2-4 |
Hornhautdystrophie | ZEB1 | ZEB1 | 2-4 |
Hutchinson-Gilford-Syndrom | LMNA | LMNA | 3-4 |
KYNU | KYNU | 5-6 | |
X-chromosomal | L1CAM | L1CAM | 3-5 |
Hyper-IgE-Syndrom | DOCK8 | DOCK8 | 4-8 |
Hyper-IgE-Syndrom | DOCK8 | DOCK8 | 4-8 |
Hyper-IgE-Syndrom | STAT3 | STAT3 | 4-8 |
Hyper-IgE-Syndrom | TYK2 | TYK2 | 4-8 |
NGS | DOCK8, STAT3, TYK2 | DOCK8, STAT3, TYK2 | 4-8 |
Hypereosinophilie-Syndrom | FIP1L1, PDGFRA | FIP1L1, PDGFRA | 3-4 |
SCN4A | SCN4A | 3-5 | |
CASR | CASR | 2-4 | |
Typ 2 | GNA11 | GNA11 | 2-4 |
Typ 3 | AP2S1 | AP2S1 | 2-4 |
Typ1 | CASR | CASR | 2-4 |
Hyperlipoproteinämie | LPL | LPL | 2-4 |
Typ 3 | APOE | APOE | 2-3 |
Typ 1 | AGXT | AGXT | 2-4 |
Typ 1 | AGXT | AGXT | 2-4 |
Typ 2 | GRHPR | GRHPR | 2-4 |
Typ 2 | GRHPR | GRHPR | 2-4 |
Typ 3 | HOGA1/DHDPSL | HOGA1/DHDPSL | 2-4 |
SLC26A1 | SLC26A1 | 2-4 | |
4-6 | |||
TRPV6 | TRPV6 | 2-4 | |
PIGV | PIGV | NULL | |
Typ 2 | ALDH4A1 | ALDH4A1 | 3-4 |
4-6 | |||
Hypoalphalipoproteinämie | LCAT | LCAT | 2-4 |
Hypochondrogenesie | COL2A1 | COL2A1 | 4-6 |
Hypochondrogenesie | COL2A1 | COL2A1 | 4-6 |
Hypochondrogenesie | COL2A1 | COL2A1 | 2-3 |
AKT2 | AKT2 | 2-4 | |
ACAT1, CA5A, FBP1, G6PC, GYS1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, PC, PCK1, PCK2, PYGL, SLC16A1 | ACAT1, CA5A, FBP1, G6PC, GYS1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, PC, PCK1, PCK2, PYGL, SLC16A1 | ||
NGS | 4-8 | ||
NGS | 4-6 | ||
kongenitale Katarakt | FAM126A | FAM126A | 4-6 |
SLC34A3 | SLC34A3 | 2-4 | |
SLC34A1 | SLC34A1 | 2-4 | |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
NGS | ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3 | ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3 | 4-8 |
Typ 1 | LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR | LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR | 2-4 |
Typ 1 | POU1F1 | POU1F1 | 2-4 |
Typ 3 | LHX3 | LHX3 | 2-4 |
Typ 4 | LHX4 | LHX4 | 2-4 |
Typ 5 | HESX1 | HESX1 | 2-4 |
Typ 2 | SLC38A8 | SLC38A8 | 3-4 |
hypoplastisches Linksherz-Syndrom | NKX2-5 | NKX2-5 | 2-4 |
Typ 1 | SLC22A12 | SLC22A12 | 2-4 |
Typ 2 | SLC2A9 | SLC2A9 | 2-4 |
MLPA | 2-4 | ||
NGS | HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6 | HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6 | 4-8 |
Typ 1 | HFE | HFE | 4-8 |
Typ 2A | HFE2/HJV | HFE2/HJV | 4-8 |
Typ 2B | HAMP | HAMP | 4-8 |
Typ 3 | TFR2 | TFR2 | 4-8 |
Typ 4 | SLC40A1 | SLC40A1 | 2-4 |
Typ 5 | BMP6 | BMP6 | 4-8 |
Hämophilie B | F9 | F9 | 4-6 |
NGS | ABCA12, ALOX12B, ALOXE3, CYP4F22, KRT1, KRT10, LIPN, NIPAL4, STS, TGM1 und weitere | ABCA12, ALOX12B, ALOXE3, CYP4F22, KRT1, KRT10, LIPN, NIPAL4, STS, TGM1 und weitere | 4-8 |
X-chromosomale | STS | STS | 5-8 |
X-chromosomale | STS | STS | 5-8 |
ADCY10 | ADCY10 | 2-4 | |
IGF1R, IGFBP3, IGFALS | IGF1R, IGFBP3, IGFALS | 2-4 | |
IL3RA | IL3RA | 2-4 | |
kombinierter schwerer | JAK3 | JAK3 | 4-6 |
kombinierter schwerer | CD247, CD3D/E, CD45, CORO1A, DCLRE1C , IL2RG, IL7R | CD247, CD3D/E, CD45, CORO1A, DCLRE1C ,IL2RG, IL7R | 4-8 |
kombinierter schwerer | ZAP70 | ZAP70 | 6-8 |
Immundefizienz | IRAK4 | IRAK4 | 6-8 |
Immunglobulin A (IgA)-Mangel | TNFRSF13B | TNFRSF13B | 4-6 |
ITGA2 | ITGA2 | 2-3 | |
DEAF1 | DEAF1 | NULL | |
CNKSR2 | CNKSR2 | NULL | |
SETD5 | SETD5 | NULL | |
Interleukin-1 Rezeptor-Antagonist-Mangel | IL1RN | IL1RN | 3-5 |
NULL | |||
Isovalerianazidämie | IVD | IVD | 5-6 |
CACNB4 | CACNB4 | 34-35 | |
CACNG4 | CACNG4 | NULL | |
- | FGFR1, PROKR2, PROK2, KISS1R, NELF, GNRH1, GNRHR | FGFR1, PROKR2, PROK2, KISS1R, NELF, GNRH1, GNRHR | 3-4 |
- | KISS1R | KISS1R | 2-4 |
- | TACR3 | TACR3 | 2-4 |
NGS | 4-8 | ||
Typ 1 | KAL1/ANOS1 | KAL1/ANOS1 | 2-4 |
Typ 1 | KAL1/ANOS1 | KAL1/ANOS1 | 2-4 |
Typ 2 | FGFR1 | FGFR1 | 2-4 |
Typ 3 | PROKR2 | PROKR2 | 2-4 |
Typ 5 | CHD7 | CHD7 | 2-4 |
Typ 5 | CHD7 | CHD7 | 2-4 |
Typ 6 | FGF8 | FGF8 | 2-4 |
TNNI3 | TNNI3 | 2-4 | |
dilatativ / hypertrophe | NEXN | NEXN | 2-4 |
dilatative | ACTN2 | ACTN2 | NULL |
dilatative | TNNT2 | TNNT2 | 2-4 |
dilatative | MYH7 | MYH7 | 2-4 |
dilatative oder hypertrophe | MYBPC3 | MYBPC3 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | DSG2 | DSG2 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | PKP2 | PKP2 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | PKP2 | PKP2 | 2-4 |
hypertrophe | TPM1 | TPM1 | NULL |
hypertrophe | RBM20 | RBM20 | 2-4 |
LDB3 | LDB3 | NULL | |
MYH6 | MYH6 | 2-4 | |
MYOM1 | MYOM1 | 2-4 | |
PLN | PLN | NULL | |
SLC25A3 | SLC25A3 | 3-4 | |
NGS | ACTC1, ACTN2, ALPK3, ANKRD1, CALR3, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, SLC25A4, SOS1, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL | ACTC1, ACTN2, ALPK3, ANKRD1, CALR3, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, M | 4-8 |
LMNA | LMNA | 2-4 | |
TTN | TTN | NULL | |
NHS | NHS | 2-4 | |
Typ 17 | CRYBB1 | CRYBB1 | 2-4 |
Typ 2 | CRYGC | CRYGC | 2-4 |
Typ 3 | CRYBB2 | CRYBB2 | 2-4 |
Typ 31 | CHMP4B | CHMP4B | 2-4 |
Typ 4 | CRYGD | CRYGD | 2-4 |
Typ 9 | CRYAA | CRYAA | 2-4 |
Kaudale Regressions-Sequenz | VANGL1 | VANGL1 | 5-6 |
Kearns-Sayre-Syndrom | MTTL2 | MTTL2 | 3-4 |
NGS | ACADM, ACADVL, HADHA, HADHB, HMGCL, HMGCS2 | ACADM,ACADVL,HADHA,HADHB,HMGCL,HMGCS2 | 4-8 |
3-Hydroxyisobutyrat-Dehydrogenase-Mangel | HIBADH | HIBADH | 2-4 |
NGS | ACAT1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, SLC16A1 | ACAT1,GYS2,HIBADH,HMGCL,HSD17B10,OXCT1,SLC16A1 | 2-4 |
Ketothiolase-Mangel | ACAT1 | ACAT1 | 2-4 |
MGP | MGP | 4-6 | |
ACAN, FGFR3, GH1, GHR, GHRHR, GHSR, IGF1, IGF1R, IGFALS, IHH, NPR2, SHOX, STAT5B | ACAN,FGFR3,GH1,GHR,GHRHR,GHSR,IGF1,IGF1R,IGFALS,IHH,NPR2,SHOX,STAT5B | 4-6 | |
ACAN, COL10A1, COL2A1, COMP, FGFR3, IHH, NPR2, PTH1R, PTHLH, ROR2, SHOX | ACAN,COL10A1,COL2A1,COMP,FGFR3,IHH,NPR2,PTH1R,PTHLH,ROR2,SHOX | 4-6 | |
BRAF, CREBBP, CUL7, DHCR7, HRAS, NIPBL, PTPN11 | BRAF,CREBBP,CUL7,DHCR7,HRAS,NIPBL,PTPN11 | 4-6 | |
diastrophischer | SLC26A2 | SLC26A2 | 2-4 |
Typ 1 | GDF6 | GDF6 | 8-20 |
Typ 3 | GDF3 | GDF3 | 8-20 |
ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, TET2, TP53, U2AF1 | ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, T | 2 | |
ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, TET2, TP53, U2AF1 | ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, T | 2 | |
NGS | RCA2 (FANCD1), BRIP1 (FANCJ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, MPL, SBDS... | RCA2 (FANCD1), BRIP1 (FANCJ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, | 4-8 |
POLE1 | POLE1 | 4-6 | |
hereditäres nicht polypöses | PMS2 | PMS2 | 4-6 |
hereditäres nicht polypöses | NULL | ||
Immunhistochemie (MLH1, MSH2, MSH6, PMS2) | 3-6 | ||
NGS | MLH1, MSH2, MSH6, PMS2, EPCAM | MLH1, MSH2, MSH6, PMS2, EPCAM | 4-8 |
CARS2 | CARS2 | ||
kombinierter Faktor 5 und 8-Mangel | LMAN1 | LMAN1 | 4-6 |
verschiedene Gene für CFEOM | verschiedene Gene für CFEOM | 4-8 | |
kongenitalse malabsorptive Diarrhoe | NEUROG3 | NEUROG3 | 4-8 |
1-2 | |||
LARGE assoziierte Erkrankungen | LARGE | LARGE | 5-6 |
amyotrophe | FUS | FUS | 8 |
amyotrophe | CHCHD10 | CHCHD10 | 2-4 |
amyotrophe | KIF5A | KIF5A | 3-4 |
amyotrophe | SOD1 | SOD1 | 3-4 |
amyotrophe 14 | VCP | VCP | 2-6 |
amytrophe | ALS2, ANG, ATXN2, DAO, FIG4, FUS, KIF5A, OPTN, PFN1, PON1, ... | ALS2, ANG, ATXN2,DAO, FIG4, FUS, KIF5A, OPTN, PFN1, PON1, ... | 4-8 |
Primäre | PLS | PLS | NULL |
Typ 2 | ALS2 | ALS2 | 1-9 / 100 000 |
- | DTHD1 | DTHD1 | 3-4 |
Typ 1 | GUCY2D | GUCY2D | 4-5 |
Typ 10 | CEP290 | CEP290 | 3-5 |
Typ 11 | IMPDH1 | IMPDH1 | 3-4 |
Typ 12 | RD3 | RD3 | 3-4 |
Typ 13 | RDH12 | RDH12 | 3-4 |
Typ 14 | LRAT | LRAT | 3-4 |
Typ 15 | TULP1 | TULP1 | 3-4 |
Typ 16 | KCNJ13 | KCNJ13 | 3-4 |
Typ 2 | RPE65 | RPE65 | 3-4 |
Typ 3 | SPATA7 | SPATA7 | 3-4 |
Typ 4 | AIPL1 | AIPL1 | 4-6 |
Typ 5 | LCA5 | LCA5 | 3-4 |
Typ 6 | RPGRIP1 | RPGRIP1 | 3-4 |
Typ 6 | RPGRIP1 | RPGRIP1 | 3-4 |
Typ 7 | CRX | CRX | 3-4 |
Typ 7 | GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26) | GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26) | 3-4 |
Typ 8 | CRB1 | CRB1 | 4-5 |
Typ 8 | AIPL1, CRB1, CRX, LCA5, RPE65 | AIPL1, CRB1, CRX, LCA5, RPE65 | 2-4 |
Typ 9 | NMNAT1 | NMNAT1 | 3-4 |
Lebersche Hereditäre Optikusneuropathie | MT-ND1, MT-ND4, MT-ND6 | MT-ND1, MT-ND4, MT-ND6 | 2-4 |
Leigh-Syndrom | SURF1 | SURF1 | 2-4 |
COL4A6 | COL4A6 | 2-4 | |
EL | EL | ||
GABRB3 | GABRB3 | 2-4 | |
Leukenzephalopathie | 4-8 | ||
megalenzephalen, mit subkortikalen Zysten | HEPACAM | HEPACAM | 8-20 |
megalenzephalen, mit subkortikalen Zysten | MLC1 | MLC1 | 8-20 |
mit axonalen Sphäroiden und pigmentierter Glia | CSF1R | CSF1R | 8-20 |
mit Hirnstamm- und Rückenmark | DARS2 | DARS2 | 8-12 |
zystische, ohne Megalenzephalie | RNASET2 | RNASET2 | 8-20 |
CEBPA, cKIT | CEBPA, cKIT | NULL | |
GATA2 | GATA2 | NULL | |
qualitativ | PML-RARA | PML-RARA | 1 |
quantitativ | PML-RARA | PML-RARA | 1-2 |
NGS | ASXL1, CALR, CBL, CSF3R, ETNK1, EZH2, JAK2, KRAS, MPL, NRAS, RUNX1, SETBP1, SRSF2, TET2, U2AF1 | ASXL1, CALR, CBL, CSF3R, ETNK1, EZH2, JAK2, KRAS, MPL, NRAS, RUNX1, SETBP1, SRSF2, TET2, U2AF1 | 2 |
- | DNMT3A | DNMT3A | 2 |
- | NRAS | NRAS | 2 |
NGS | JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53 | JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53 | 2 |
- | TP53 | TP53 | 2 |
LH-Resistenz | LHCGR | LHCGR | 2-4 |
Typ 1 | LIS1/PAFAH1B1 | LIS1/PAFAH1B1 | 4-5 |
Typ 2 | RELN | RELN | 8-12 |
X-chromosomal | DCX | DCX | 8-9 |
TUBA1A | TUBA1A | NULL | |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR2 | TGFBR2 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR2 | TGFBR2 | 3-5 |
LRP5 | LRP5 | 2-3 | |
- | IGH/BCL2 | IGH/BCL2 | 2 |
NGS | BCL2, CREBBP, EP300, EZH2, KMT2D (MLL2), MEF2B, TP53 | BCL2, CREBBP, EP300, EZH2, KMT2D (MLL2), MEF2B, TP53 | 2 |
NGS | DNMT3A, IDH2, RHOA, STAT3, TET2, TP53 | DNMT3A, IDH2, RHOA, STAT3, TET2, TP53 | 2 |
lysinurische Proteinintoleranz | SLC7A7 | SLC7A7 | 2-4 |
- | CDH1 | CDH1 | 4-6 |
Majeed-Syndrom | LPIN2 | LPIN2 | 4-6 |
NULL | |||
Makuladystrophie, vitelliforme | BEST1 | BEST1 | 3-4 |
PLCB1 | PLCB1 | NULL | |
Marfan-Syndrom | FBN1 | FBN1 | 2-4 |
Marfan-Syndrom | FBN1 | FBN1 | 2-4 |
NGS | FBN1, TGFBR1, TGFBR2 | FBN1,TGFBR1,TGFBR2 | 4-6 |
NGS | ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1 | ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1 | 2 |
GNAS | GNAS | 4-6 | |
Medium-chain-Acyl-CoA-Dehydrogenase-Mangel | ACADM | ACADM | 2-4 |
Medium-chain-Acyl-CoA-Dehydrogenase-Mangel | ACADM | ACADM | 2-4 |
AKT3 | AKT3 | NULL | |
4 | CDT1 | CDT1 | NULL |
Meier-Gorlin-Syndrom 1 | ORC1 | ORC1 | 7-8 |
MELAS-Syndrom | MT-TL1 | MT-TL1 | 2-4 |
FLNA | FLNA | 4-6 | |
FLNA | FLNA | 6-8 | |
ATRX | ATRX | NULL | |
AUTS2 | AUTS2 | NULL | |
4-8 | |||
TAOK2 | TAOK2 | ||
TRIO | TRIO | NULL | |
MERRF-Syndrom | MTTK | MTTK | 2-4 |
metachromatische Leukodystrophie | ARSA | ARSA | 4-6 |
Typ Schmid | COL10A1 | COL10A1 | 3-4 |
HIBCH | HIBCH | 2-4 | |
Methionin-Adenosyltransferase-Mangel | MAT1A | MAT1A | 6-8 |
Methylmalonat-Semialdehyd-Dehydrogenase-Mangel | ALDH6A1 | ALDH6A1 | 6-7 |
cbl C | MMACHC | MMACHC | 2-4 |
cbl C | MMACHC | MMACHC | 2-4 |
cbl D | MMADHC | MMADHC | 2-4 |
Methylmalonyl-CoA-Mutase-Mangel | MMUT | MMUT | 6-8 |
Sequenzanalyse MMUT | MMUT | MMUT | 2-4 |
familiäre hemiplegische | ATP1A2, CACNA1A, NOTCH3, SCN1A | ATP1A2, CACNA1A, NOTCH3, SCN1A | 4-8 |
familiäre hemiplegische 1 | CACNA1A | CACNA1A | 4-6 |
familiäre hemiplegische 2 | ATP1A2 | ATP1A2 | 8-10 |
familiäre hemiplegische 3 | SCN1A | SCN1A | 4-5 |
Mikrolissenzephalie | NDE1 | NDE1 | NULL |
SLC25A22 | SLC25A22 | 2-4 | |
LIG4 | LIG4 | 4-6 | |
4-8 | |||
- | CEP63 | CEP63 | 3-5 |
- | IER3IP1 | IER3IP1 | 3-5 |
- | KIF11 | KIF11 | 3-5 |
- | MYO16 | MYO16 | 3-5 |
- | PCNT | PCNT | 3-5 |
- | RBBP8 | RBBP8 | 4-6 |
- | RTTN | RTTN | 3-5 |
- | SLC25A19 | SLC25A19 | 3-5 |
- | TRAPPC9 | TRAPPC9 | 3-5 |
- | TUBB2B | TUBB2B | 3-5 |
MCPH1 | MCPH1 | MCPH1 | 3-5 |
MCPH2 | WDR62 | WDR62 | 3-5 |
MCPH3 | CDK5RAP2 | CDK5RAP2 | 3-5 |
MCPH4 | CASC5 | CASC5 | 3-5 |
MCPH4, MCPH9 | CEP152 | CEP152 | 3-5 |
MCPH5 | ASPM | ASPM | 3-5 |
MCPH6 | CENPJ | CENPJ | 3-5 |
MCPH8 | CEP135 | CEP135 | 5-7 |
Seckel syndrome | ATR | ATR | 3-5 |
- | PLK4 | PLK4 | 2-4 |
LMNB1 | LMNB1 | ||
SPATA5 | SPATA5 | NULL | |
QARS | QARS | NULL | |
mitochondrialer trifunktionaler Protein-Mangel | HADHB | HADHB | 4-8 |
FBXL4 | FBXL4 | NULL | |
MNGIE-Syndrom | TYMP, POLG, MGME1, RRM2B | TYMP, POLG, MGME1, RRM2B | 4-6 |
MNGIE-Syndrom | TYMP | TYMP | 2-4 |
4-8 | |||
Typ A | MOCS1 | MOCS1 | 9-10 |
Typ B | MOCS2 | MOCS2 | 9-10 |
Typ C | GPHN | GPHN | 4-8 |
KRT86 | KRT86 | 4-8 | |
Morbus Darier | ATP2A2 | ATP2A2 | 4-6 |
Morbus Krabbe | GALC | GALC | 6-10 |
NGS | ACVRL1, ENG, SMAD4, GDF2 | ACVRL1, ENG, SMAD4, GDF2 | 4-6 |
Typ 1 | ENG | ENG | 4-6 |
Typ 1,2 | ENG, ACVRL1 | ENG, ACVRL1 | 2-3 |
Typ 2 | ACVRL1 | ACVRL1 | 4-6 |
Typ 5 | GDF2 | GDF2 | 4-6 |
Morbus Wilson | ATP7B | ATP7B | 2-4 |
Morbus Wilson | ATP7B | ATP7B | 2-4 |
NGS | ATP7B | ATP7B | 2-4 |
NULL | |||
Mowat-Wilson-Syndrom | ZEB2/ZFHX1B | ZEB2/ZFHX1B | 5-6 |
Muenke-Syndrom | FGFR3 | FGFR3 | 1-2 |
multi-drug-Resistenz | ABCB1/MDR1 | ABCB1/MDR1 | 2-3 |
PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS | PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS | 2-4 | |
NGS | BRAF, DIS3, FAM46C, KRAS, NRAS, TP53 | BRAF, DIS3, FAM46C, KRAS, NRAS, TP53 | 2 |
multiples Pterygium-Syndrom | CHRNG | CHRNG | 4-6 |
Muskel-Augen-Gehirn-Krankheit | POMGNT1 | POMGNT1 | 5-6 |
RAPSN | RAPSN | NULL | |
kongenitales | CHRND | CHRND | 5-6 |
MUSK | MUSK | NULL | |
NGS | ASXL1, CBL, EZH2, ETNK1, IDH2, JAK2, KIT, SETBP1, SF3B1, TET2 | ASXL1,CBL, EZH2, ETNK1, IDH2, JAK2, KIT, SETBP1, SF3B1, TET2 | 2 |
- | AMH | AMH | 2-3 |
- | AMHR2 | AMHR2 | 2-3 |
- | AMH, AMHR2 | AMH,AMHR2 | 3-4 |
NGS | PDGFRB, NOTCH3 | PDGFRB, NOTCH3 | 4-8 |
rekurrente, genetisch bedingte | LPIN1 | LPIN1 | 2-4 |
juvenile | CACNA1A | CACNA1A | 34-35 |
juvenile | CACNA2D2 | CACNA2D2 | 8-12 |
CLCN2 | CLCN2 | NULL | |
SGCA, SGCB, SGCD, SGCG und FKRP | SGCA, SGCB, SGCD, SGCG und FKRP | 4-6 | |
4-6 | |||
4-6 | |||
SGCA, SGCB, SGCD, SGCG und FKRP | SGCA, SGCB, SGCD, SGCG und FKRP | ||
SEPN1 | SEPN1 | 3-4 | |
distale | ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP | ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM | 4-8 |
metabolische | AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere | AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere | 4-8 |
NGS | verschiedene Gene für MYOP | verschiedene Gene für MYOP | 4-8 |
Becker, Thomsen | CLCN1 | CLCN1 | 2-4 |
Becker, Thomsen | CLCN1 | CLCN1 | 2-4 |
X-linked | MTM1 | MTM1 | 3-4 |
N-Acetylglutamat-Synthetase-Mangel | NAGS | NAGS | 2-4 |
N-Acetyltransferase 2-Mangel | NAT2 | NAT2 | 2-3 |
NACC1 | NACC1 | NULL | |
ANKLE2 | ANKLE2 | NULL | |
DCHS2 | DCHS2 | NULL | |
DNAJB9 | DNAJB9 | NULL | |
NRK | NRK | NULL | |
PIP5K1A | PIP5K1A | NULL | |
PLEKHG4 | PLEKHG4 | NULL | |
PRDM9 | PRDM9 | NULL | |
SRSF5 | SRSF5 | NULL | |
TOE1 | TOE1 | NULL | |
DNAJC3 | DNAJC3 | NULL | |
NGS | diverse Gene | diverse Gene | 4-8 |
autosomal dominant 2 | PDE6B | PDE6B | 4-6 |
Autosomal dominant, Typ 1 | RHO | RHO | 4-6 |
Autosomal dominant, Typ 3 | GNAT1 | GNAT1 | 4-6 |
autosomal-rezessiv, Typ 1B | GRM6 | GRM6 | 4-5 |
autosomal-rezessiv, Typ 1C | TRPM1 | TRPM1 | 4-5 |
autosomal-rezessiv, Typ 1E | GPR179 | GPR179 | 4-5 |
autosomal-rezessiv, Typ 1F | LRIT3 | LRIT3 | 3-4 |
autosomal-rezessiv, Typ 2B | CABP4 | CABP4 | 4-5 |
Typ 1D | SLC24A1 | SLC24A1 | 3-4 |
X-chromosomal, Typ 1A | NYX | NYX | 3-4 |
X-chromosomal, Typ 2A | CACNA1F | CACNA1F | 4-5 |
Nagel-Patella-Syndrom | LMX1B | LMX1B | 3-4 |
Nagel-Patella-Syndrom | LMX1B | LMX1B | 2-3 |
NULL | |||
Natrium-Diarrhoe, kongenitale | SPINT2 | SPINT2 | NULL |
- | KLHL41 | KLHL41 | 4-6 |
Typ Amish | TNNT1 | TNNT1 | 4-5 |
NPHP1 | NPHP1 | NPHP1 | 2-5 |
NPHP1 | NPHP1 | NPHP1 | 2-3 |
Netherton-Syndrom | SPINK5 | SPINK5 | 4-5 |
APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR | APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR | 4-6 | |
4-8 | |||
Typ 2 | 4-8 | ||
GNAO1 | GNAO1 | ||
Typ Fiskerstrand | ABHD12 | ABHD12 | 3-4 |
kongenital schwere 3 | HAX1 | HAX1 | 4-6 |
kongenital schwere 6 | JAGN1 | JAGN1 | 4-8 |
kongenitale schwere 1 | ELANE/ELA2 | ELANE/ELA2 | 2-4 |
somatische Mutationen | CSF3R, TP53 | CSF3R, TP53 | 2 |
X-chromosomal | WAS | WAS | 4-8 |
NGS | CSF3R, SETBP1, ASXL1 | CSF3R, SETBP1, ASXL1 | 2 |
NFE2L3 | NFE2L3 | NULL | |
NULL | |||
1-2 | |||
nicht-ketotische Hyperglycinämie | GCSH | GCSH | 3-4 |
NGS | 4-8 | ||
pappilär | MET | MET | 2-4 |
NGS | BAP1, FH, FLCN, MET, MITF, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL | BAP1, FH, FLCN, MET, MITF, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL | 4-6 Wochen |
Nijmegen-Chromosomenbruch-Syndrom | NBN | NBN | 4-5 |
Nijmegen-Chromosomenbruch-Syndrom | NBN | NBN | 4-5 |
NBN | NBN | 2-4 Wochen | |
NGS | NF1, NF2, CBL, NRAS, KRAS, PTPN11 | NF1, NF2, CBL, NRAS, KRAS, PTPN11 | 4-6 |
NDP | NDP | 2-4 | |
verschiedene Gene für NYS | verschiedene Gene für NYS | 4-8 | |
Typ 1 | FRMD7 | FRMD7 | 2-4 |
Typ 1 | FRMD7 | FRMD7 | 2-4 |
Typ 6 | GPR143 | GPR143 | 2-4 |
LRIG2 | LRIG2 | NULL | |
Okihiro-Syndrom | SALL4 | SALL4 | 4-6 |
Ornithintranscarbamylase-Mangel | OTC | OTC | 5-8 |
Ornithintranscarbamylase-Mangel | OTC | OTC | 3-4 |
NGS | COL1A1, COL1A2, CRTAP, FKBP10, LEPRE1, PPIB, SERPINF1, .. | COL1A1,COL1A2,CRTAP,FKBP10,LEPRE1,PPIB,SERPINF1,.. | 4-8 |
Typ 12 | SP7 | SP7 | 4-8 |
NGS | LMNA, MAFB, MMP14, MMP2, NOTCH2, TNFRSF11A, TREM2, TYROBP, ZMPSTE24 | LMNA, MAFB, MMP14, MMP2, NOTCH2, TNFRSF11A, TREM2, TYROBP, ZMPSTE24 | 4-6 |
Typ 2, 4 | CLCN7 | CLCN7 | 5-6 |
Typ 1 | TCIRG1 | TCIRG1 | 5-6 |
Typ 2 | TNFSF11 | TNFSF11 | 5-6 |
Typ 5 | OSTM1 | OSTM1 | 5-6 |
Typ 7 | TNFRSF11A | TNFRSF11A | 5-6 |
X-chromosomal | PLS3 | PLS3 | 4-8 |
LRP5 | LRP5 | 3-4 | |
FLNA | FLNA | NULL | |
2 | KRT17 | KRT17 | 4-8 |
NGS | KRT16, KRT17, KRT6A, KRT6B, KRT6C | KRT16, KRT17, KRT6A, KRT6B, KRT6C | 4-8 |
NGS | BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11 | BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11 | 4-8 |
- | CDKN2A | CDKN2A | 3-4 |
Pankreatische Colipase-Mangel | PNLIP | PNLIP | 2-4 |
PRSS1, SPINK1, CTRC | PRSS1, SPINK1, CTRC | 2-4 | |
Pankreatitis, hereditär | CFTR | CFTR | 1-3 |
Pankreatitis, hereditär | CFTR | CFTR | 1-3 |
Pankreatitis, hereditär | PRSS1 | PRSS1 | 3-4 |
Pankreatitis, hereditär | SPINK1 | SPINK1 | 3-4 |
SCN4A | SCN4A | 3-5 | |
PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1 | PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1 | 2-3 | |
17 | VPS35 | VPS35 | 4-8 |
23 | VPS13C | VPS13C | 4-8 |
frühkindlich hypotonisch | SLC18A2 | SLC18A2 | 4-8 |
Parkinson-Krankheit | LRRK2 | LRRK2 | 4-8 |
Parkinson-Krankheit | diverse | diverse | 4-8 |
Parkinson-Krankheit | PINK1 | PINK1 | 4-8 |
Parkinson-Krankheit | PINK1 | PINK1 | 4-8 |
Parkinson-Krankheit 1,4 | SNCA | SNCA | 4-8 |
Typ 2 | PRKN | PRKN | 4-8 |
paroxysmale nächtliche Hämoglobinurie | PIGA | PIGA | 2-4 |
paroxysmale nächtliche Hämoglobinurie | PIGA, PIGT | PIGA,PIGT | 2-4 |
partielle Chromosom Y-Deletion, AZF-Faktor | USP9Y | USP9Y | 2-4 |
Parvovirus B19 | 1-2 | ||
Peeling-Skin-Syndrom | TGM5 | TGM5 | 5-7 |
PLP1 | PLP1 | 2-3 | |
PLP1 | PLP1 | 2-3 | |
Pelizaeus-Merzbacher-ähnliche Krankheit | AIMP1 | AIMP1 | 5-7 |
Pelizaeus-Merzbacher-ähnliche Krankheit | GJC2 | GJC2 | 4-5 |
Pelizaeus-Merzbacher-ähnliche Krankheit | HSPD1 | HSPD1 | 4-5 |
Pendred-Syndrom | FOXI1, KCNJ10, SLC26A4 | FOXI1, KCNJ10, SLC26A4 | 15-16 |
CLPP; HARS2, HSD27B4, LARS2 | CLPP; HARS2, HSD27B4, LARS2 | 4-8 | |
Autosomal-rezessiv | HARS2 | HARS2 | 2-4 |
Autosomal-rezessiv | HSD17B4 | HSD17B4 | 3-4 |
Typ 3 | CLPP | CLPP | 3-4 |
Typ 4 | LARS2 | LARS2 | 3-4 |
ATOH7 | ATOH7 | 2-4 | |
- | PAX6 | PAX6 | 2-4 |
- | PITX2 | PITX2 | 2-4 |
B3GLCT | B3GLCT | 2-4 | |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 4-8 |
- | FGFR1 | FGFR1 | 1-2 |
- | FGFR1 | FGFR1 | 3-4 |
- | FGFR2 | FGFR2 | 1-2 |
- | FGFR2 | FGFR2 | 3-4 |
- | KIT | KIT | 3 |
Piebaldismus | SNAI2 | SNAI2 | 3-4 |
Piebaldismus | SNAI2 | SNAI2 | 3-4 |
Pierson-Syndrom | LAMB2 | LAMB2 | 2-4 |
RUNX1 | RUNX1 | ||
RUNX1, GATA2, TERC, TERT, CEBPA | RUNX1,GATA2,TERC,TERT,CEBPA | 2-4 Wochen | |
IQCE | IQCE | ||
AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 | AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 | NULL | |
autoimmun, Typ 1 | AIRE | AIRE | 2 - 4 |
autoimmun, Typ 1 | 2 - 4 | ||
STRADA | STRADA | NULL | |
POLD1 | POLD1 | ||
- | SMAD4 | SMAD4 | 4-8 |
- | SMAD4 | SMAD4 | 4-8 |
- | ALG8 | ALG8 | 3-4 |
- | GANAB | GANAB | 3-4 |
- | PRKCSH | PRKCSH | 3-4 |
- | SEC63 | SEC63 | 3-4 |
Typ 2C | TSEN34 | TSEN34 | NULL |
Porenzephalie 1 | COL4A1 | COL4A1 | 6-8 |
Porenzephalie 2 | COL4A2 | COL4A2 | 4-8 |
Porphyria variegata | PPOX | PPOX | 8-20 |
akute intermittierende | HMBS | HMBS | 8-20 |
SNRPN | SNRPN | 2-4 | |
PDE11A | PDE11A | 2-4 | |
4-8 | |||
Typ 1 | ATP8B1 | ATP8B1 | 2-4 |
Typ 2 | ABCB11 | ABCB11 | 2-4 |
Typ 3 | ABCB4 | ABCB4 | 2-4 |
Typ 3 | ABCB4 | ABCB4 | 2-4 |
Typ 4 | TJP2 | TJP2 | 2-4 |
NGS | AIP, DICER, MEN1, SDHB | AIP, DICER, MEN1, SDHB | 4-6 |
Protein-C-Rezeptor-Mangel | PROCR | PROCR | 3-4 |
NGS | AKT1, PIK3CA, PTEN | AKT1, PIK3CA, PTEN | 4-6 |
AKT1 | AKT1 | 3-4 | |
Pseudoachondroplasie | COMP | COMP | 2-4 |
GNAS | GNAS | 2-4 | |
Pseudoxanthoma elasticum | ABCC6 | ABCC6 | NULL |
Pseudoxanthoma elasticum | ABCC6 | ABCC6 | 2-4 |
Pyruvat-Carboxylase-Mangel | PC | PC | 2-4 |
PHYH | PHYH | 4-6 | |
NLRP7/NALP7, KHDC3L, MEI1, C11orf80 | NLRP7/NALP7, KHDC3L, MEI1, C11orf80 | ||
NULL | |||
NGS | 4-6 | ||
restriktive Dermopathie | ZMPSTE24 | ZMPSTE24 | 6-8 |
SMARCB1 | SMARCB1 | 2-3 Wochen | |
Roberts-Syndrom | ESCO2 | ESCO2 | 2-4 |
autosomal-dominant | DVL1 | DVL1 | 4-6 |
autosomal-dominant | WNT5A | WNT5A | 2-4 |
autosomal-rezessiv | ROR2 | ROR2 | 2-4 |
autosomal-rezessiv | ROR2 | ROR2 | 2-3 |
Schilddrüsen-Dyshormonogenese | TPO | TPO | 2-4 |
DUOX2 | DUOX2 | 2-4 | |
NGS | DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1 | DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2 | 4-8 |
TPO, PAX8, FOXE1, NKX2-1, TSHR | TPO, PAX8, FOXE1, NKX2-1, TSHR | 2-4 | |
NULL | |||
sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel | ACADVL | ACADVL | 2-4 |
ASXL2 | ASXL2 | NULL | |
SHOX-Defizienz | SHOX | SHOX | 2-4 |
SHOX-Defizienz | SHOX | SHOX | 2-4 |
NEU1 | NEU1 | NULL | |
Sialinsäure-Speicherkrankheit | SLC17A5 | SLC17A5 | 4-6 |
Methylierungsanalyse H19-DMR und KvDMR1 | H19, KCNQ1OT1 | H19,KCNQ1OT1 | 2-4 |
MLPA Analyse UPD(7)mat | GRB10, MEST | GRB10,MEST | 2-4 |
ALDH3A2/FALDH | ALDH3A2/FALDH | 2-4 | |
ALDH3A2/FALDH | ALDH3A2/FALDH | 3-5 | |
NGS | AMER1, ANKH, CA2, CLCN7, COL1A1, CSF1R, CTSK, DHCR24, DLX3, FAM20C, FERMT3, FGF23, GALNT3, GJA1, HPGD, IKBKG, KL, LEMD3, LRP4, LRP5, LRRK1, MAP2K1, MTAP, OSTM1, PLEKHM1, POLR3B, PTDSS1, PTH1R, SFRP4, SLC29A3, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, ..... | AMER1, ANKH, CA2, CLCN7, COL1A1, CSF1R, CTSK, DHCR24, DLX3, FAM20C, FERMT3, FGF23, GALNT3, GJA1, HPG | 4-6 |
NGS | ALPL, ANO5, ATP6V0A2, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DDX58, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MBTPS2, NBAS, NOTCH2, P3H1, P4HB, PLOD2, PLS3, POLR3A, PPIB, PYCR1, SEC24D, SERPINF1, SERPINH1, SGMS2, SP7, SPARC, TENT5A, ........ | ALPL, ANO5, ATP6V0A2, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DDX58, FKBP10, GORAB, | 4-6 |
Typ Charlevoix-Saguenay | SACS | SACS | 14-16 |
Typ 11 | SPG11 | SPG11 | 4-5 |
Typ 17 | BSCL2 | BSCL2 | 4-5 |
Typ 3 | ATL1 | ATL1 | 2-4 |
Typ 3 | ATL1 | ATL1 | 2-3 |
Typ 31 | REEP1 | REEP1 | 3-4 |
Typ 4 | SPAST | SPAST | 2-4 |
Typ 4 | SPAST | SPAST | 2-3 |
Typ 5 | CYP7B1 | CYP7B1 | 3-4 |
Typ 6 | NIPA1 | NIPA1 | NULL |
Typ 7 | SPG7 | SPG7 | 8-12 |
Typ 8 | KIAA0196 | KIAA0196 | NULL |
DDHD2 | DDHD2 | NULL | |
WASHC5 | WASHC5 | NULL | |
PNPLA6 | PNPLA6 | NULL | |
Typ 1 | IGHMBP2 | IGHMBP2 | 3-4 |
Typ 1, 2, 3, 4 | SMN1 | SMN1 | 3-4 |
Typ 1, 2, 3, 4 | SMN1 | SMN1 | 10-14 |
Typ 3 | SMN2 | SMN2 | 2-3 |
Typ trada | TRAPPC2 | TRAPPC2 | 2-4 |
kongenitaler Typ | COL2A1 | COL2A1 | 4-6 |
kongenitaler Typ | COL2A1 | COL2A1 | 4-6 |
kongenitaler Typ | COL2A1 | COL2A1 | 2-3 |
MATN3 | MATN3 | NULL | |
Stargardt-ähnliche Makuladystrophie | IMPG1 | IMPG1 | 2-4 |
COL27A1 | COL27A1 | NULL | |
Sterilität, CBAVD | CFTR | CFTR | 3-4 |
Sterilität, CBAVD | CFTR | CFTR | 3-4 |
Steroid-5-alpha-Reduktase-2-Mangel | SRD5A2 | SRD5A2 | 2-4 |
COL11A1 | COL11A1 | 2-4 | |
NGS | verschiedene Gene für STICK | verschiedene Gene für STICK | 4-8 |
Typ 1 | COL2A1 | COL2A1 | 4-6 |
Typ 1 | COL2A1 | COL2A1 | 4-6 |
Typ 1 | COL2A1 | COL2A1 | 2-3 |
Typ 2 | COL11A1 | COL11A1 | 4-6 |
Typ 2 | COL11A1 | COL11A1 | 2-4 |
Stuve-Wiedemann-Syndrom | LIFR | LIFR | 6-8 |
Störungen der Geschlechtsentwicklung | NR5A1 | NR5A1 | 2-4 |
WNT9B | WNT9B | 2-4 | |
Surfactant-Protein-Defizienz | SFTPC | SFTPC | 3-4 |
Surfactant-Protein-Defizienz | ABCA3 | ABCA3 | 3-4 |
Surfactant-Protein-Defizienz | ABCA3, SFTPC | ABCA3, SFTPC | 2-4 |
Surfactant-Protein-Defizienz | SFTPB | SFTPB | 3-4 |
Surfactant-Protein-Defizienz | SFTPB | SFTPB | 2-3 |
NGS | ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC | ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC | 6-8 |
NULL | |||
proximaler | GDF5 | GDF5 | 3-4 |
proximaler | NOG | NOG | 1-3 |
autoimmun-lymphoproliferatives Typ 2 | CASP10 | CASP10 | 2-4 |
MED13 | MED13 | ||
NGS | diverse Gene | diverse Gene | 4-8 |
NGS | CISD2, DCAF17, DNAJC3, EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, IER3IP1, MT-TL1, PAX6, RFX6, SLC19A2, SLC29A3, STAT3, TRMT10A, WFS1 | CISD2, DCAF17, DNAJC3, EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, IER3IP1, MT-TL1, PAX6, RFX6, SLC19A2, SL | 4-8 |
systemische juvenile rheumatoide Arthritis | IL6 | IL6 | 1-2 |
systemische juvenile rheumatoide Arthritis | IL6 | IL6 | 1-2 |
T-Zell-Rezeptor-gamma-Rearrangement | TCRG | TCRG | 2-3 |
RBM10 | RBM10 | 3-4 | |
AR | AR | 2-4 | |
HBA1, HBA2, HBB | HBA1, HBA2, HBB | 2-4 | |
Alpha | HBA1, HBA2 | HBA1, HBA2 | 2-4 |
Alpha | HBA1, HBA2 | HBA1, HBA2 | 2-4 |
Beta | HBB | HBB | 2-4 |
Beta | HBB | HBB | 2-4 |
HPFH | HBG1, HBG2 | HBG1, HBG2 | 3-4 |
SLC19A2 | SLC19A2 | 2-4 | |
Thrombotisch-thrombozytopenische Purpura | ADAMTS13 | ADAMTS13 | 2-4 |
MITF | MITF | 3-4 | |
Transaldolase-Mangel | TALDO1 | TALDO1 | 6-8 |
Treacher-Collins-Syndrom | POLR1C | POLR1C | 3-4 |
Treacher-Collins-Syndrom | POLR1D | POLR1D | 3-4 |
Treacher-Collins-Syndrom | TCOF1 | TCOF1 | 6-8 |
Treacher-Collins-Syndrom | TCOF1 | TCOF1 | 2-3 |
MLPA | TRPS1 | TRPS1 | 2-4 |
Trimethylaminurie | FMO3 | FMO3 | 2-4 |
TSC1, TSC2 | TSC1,TSC2 | 2-3 | |
Typ 1 | TSC1 | TSC1 | 3-4 |
Typ 2 | TSC2 | TSC2 | 4-5 |
2-3 | |||
Tumor-Prädispositionssyndrom | BAP1 | BAP1 | 2-4 |
Tumor-Prädispositionssyndrom | BAP1 | BAP1 | 2-4 |
Typ 1 | FAH | FAH | 4-6 |
KCNB1 | KCNB1 | NULL | |
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
CSTB | CSTB | 3-4 | |
Unverricht Lundborg Epilepsie | CSTB | CSTB | 4-5 |
NGS | divers | divers | 4-8 |
Typ 1B | MYO7A | MYO7A | 2-4 |
Typ 1C | USH1C | USH1C | 2-4 |
Typ 1D | CDH23 | CDH23 | 2-4 |
Typ 1F | PCDH15 | PCDH15 | 2-4 |
Typ 1F | PCDH15 | PCDH15 | 2-4 |
Typ 1G | USH1G | USH1G | 2-4 |
Typ 1J | CIB2 | CIB2 | 2-4 |
Typ 2 D | DFNB31 | DFNB31 | 2-4 |
Typ 2A | USH2A | USH2A | 2-4 |
Typ 2A | USH2A | USH2A | 2-4 |
Typ 2C | GPR98/ADGRV1 | GPR98/ADGRV1 | 2-4 |
Typ 3A | USH3A | USH3A | 2-3 |
Typ 3B | HARS | HARS | 2-4 |
Typ 48 | CIB2 | CIB2 | 3-4 |
Van-der-Woude-Syndrom | IRF6 | IRF6 | 4-6 |
Vitamin-E-abhängige Ataxie | TTPA | TTPA | 5-6 |
GHRHR | GHRHR | 2-4 | |
GH1 | GH1 | 2-4 | |
VCAN | VCAN | NULL | |
- | WT1 | WT1 | 3-4 |
B3GALNT2 | B3GALNT2 | NULL | |
ISPD | ISPD | NULL | |
4-8 | |||
POMT1 | POMT1 | NULL | |
POMT2 | POMT2 | 3-4 | |
TMEM5 | TMEM5 | NULL | |
WARS | WARS | NULL | |
Wiedemann-Steiner-Syndrom | KMT2A/MLL1 | KMT2A/MLL1 | 4-6 |
NULL | |||
Williams Beuren Syndrom | CLIP2, ELN, LIMK | CLIP2, ELN, LIMK | 3-4 |
Typ 2 | CISD2 | CISD2 | 2-4 |
WWP2 | WWP2 | ||
4-8 | |||
X-chromosomales Hyper-IgM-Syndrom | CD40LG, CD40, UNG, AICDA | CD40LG, CD40, UNG, AICDA | 5-6 Wochen |
4-6 | |||
Typ 1 | XDH | XDH | 2-4 |
primäre | PTH1R | PTH1R | 4-6 |
diverse | diverse | 4-8 | |
X-gekoppelt | ORF15, RPGR | ORF15, RPGR | 4-8 |
zerebraler cavernöse Fehlbildungen | KRIT1, CCM2, PDCD10 | KRIT1, CCM2, PDCD10 | 4-8 |
PKD1, PKD2, DNAJB11, GANAB, ALG9 | PKD1,PKD2,DNAJB11,GANAB,ALG9 | 12-18 | |
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
NULL | |||
NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8 | NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8 | 4-8 | |
NULL | |||
NULL | |||
NGS | 4-8 | ||
Renal tubuläre Dysgenesie | 12 | ||
8-12 | |||
SLC30A2 | SLC30A2 | 4-6 | |
ALG9 | ALG9 | 2-4 | |
MITOATA-NGS | |||
LEMD3 | LEMD3 | 2-4 | |
PIEZO1 | PIEZO1 | NULL | |
CDK9, CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1, MNX1, MYCN, PTF1A, RFX6, SOX2, TTC7A | CDK9, CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1, MNX1, MYCN, PTF1A, RFX6, SOX2, TTC7A | 4-6 | |
1-2 | |||
NGS | verschiedene Gene für CPEO | verschiedene Gene für CPEO | 4-6 |
NGS | ADCK3, ANO10, APTX, COQ2, COQ6, COQ9, ETFA, ETFB, ETFDH, PDSS1, PDSS2 | ADCK3, ANO10, APTX, COQ2, COQ6, COQ9, ETFA, ETFB, ETFDH, PDSS1, PDSS2 | 10-12 |
NGS | MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY | MT-ATP6,MT-ATP8,MT-CO1,MT-CO2,MT-CO3,MT-CYB,MT-ND1,MT-ND2,MT-ND3,MT-ND4,MT-ND4L,MT-ND5,MT-ND6,MT-RNR | 4-6 |
SCNN1A | SCNN1A | 2-4 | |
SCNN1B | SCNN1B | 2-4 | |
SCNN1G | SCNN1G | 2-4 | |
renaler | NR3C2 | NR3C2 | 2-4 |
mitochondrialer trifunktionaler Protein-Mangel | |||
ATAD3B | ATAD3B | 2-4 | |
CDK13 | CDK13 | NULL | |
CTBP1 | CTBP1 | NULL | |
PCDH12 | PCDH12 | NULL | |
PCM1 | PCM1 | ||
PTCHD1 | PTCHD1 | NULL | |
RASA1 | RASA1 | ||
RREB1 | RREB1 | NULL | |
SH3TC1 | SH3TC1 | 3-4 | |
SHANK2 | SHANK2 | NULL | |
TANC2 | TANC2 | 2-4 | |
WDR91 | WDR91 | NULL | |
HMGCL | HMGCL | 2-4 | |
3-Methyl-Crotonyl-CoA-Carboxylase-1-Mangel | MCCC1 | MCCC1 | 2-4 |
Aarskog-Syndrom | FGD1 | FGD1 | 2-4 |
Aarskog-Syndrom | FGD1 | FGD1 | 4-6 |
Abetalipoproteinämie | MTP | MTP | 4-6 |
Typ 1B | SLC26A2 | SLC26A2 | 3-4 |
Typ 2 | COL2A1 | COL2A1 | 4-6 |
Typ 2 | COL2A1 | COL2A1 | 4-6 |
Typ 2 | COL2A1 | COL2A1 | 2-3 |
GLI3, KIF7 | GLI3, KIF7 | NULL | |
ACTH-Mangel | TBX19 | TBX19 | 2-4 |
ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ | ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ | 4-8 | |
ADSL | ADSL | 6-10 | |
KSR2 | KSR2 | 2-4 | |
DYRK1B | DYRK1B | 2-4 | |
- | LEP | LEP | 2-4 |
- | LEPR | LEPR | 2-4 |
- | MC3R | MC3R | 2-4 |
- | MC4R | MC4R | 2-4 |
- | PCSK1 | PCSK1 | 2-4 |
- | POMC | POMC | 2-4 |
MLPA | LEPR, MC4R, POMC, LEP, MC2R | LEPR, MC4R, POMC, LEP, MC2R | 2-4 |
NGS | BBS1, BBS10, DYRK1B, KSR2, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, PPARG, SIM1, UCP3 | BBS1,BBS10,DYRK1B,KSR2,LEP,LEPR,MC3R,MC4R,NR0B2,NTRK2,PCSK1,POMC,PPARG,SIM1,UCP3 | 4-6 |
ADPKD | PKD1, PKD2 | PKD1, PKD2 | 2-4 |
Agammaglobulinämie | IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 | IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 | 4-6 |
X-chromosomal 1 | BTK | BTK | 2-4 |
NGS | BCKDHA, BCKDHB, DBT, DLD | BCKDHA, BCKDHB, DBT, DLD | 4-6 |
Typ 1A | BCKDHA | BCKDHA | 2-4 |
Typ 1B | BCKDHB | BCKDHB | 2-4 |
Typ 2 | DBT | DBT | 2-4 |
NGS | IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR | IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR | 4-8 |
- | COL3A1 | COL3A1 | 2-4 |
verschiedene Gene für ALB | verschiedene Gene für ALB | 4-6 | |
GNAS | GNAS | 2-4 | |
Alexander-Syndrom | GFAP | GFAP | 4-6 |
Alkaptonurie | HGD | HGD | 2-4 |
alpha-1-Antitrypsin-Mangel | SERPINA1 | SERPINA1 | 1-2 |
Alpha-Ketoglutarat-Dehydrogenase-Mangel | OGDH | OGDH | 3-5 |
IGFALS | IGFALS | 2-4 | |
SLC34A2 | SLC34A2 | 2-4 | |
Amyloidpolyneuropathie | TTR | TTR | 2-3 |
Amyloidpolyneuropathie | TTR | TTR | 2-3 |
SIGMAR1 | SIGMAR1 | NULL | |
SEPTIN9 | SEPTIN9 | ||
PIP | PIP | NULL | |
Androgeninsensitivitäts-Syndrom | AR | AR | 2-4 |
Androgeninsensitivitäts-Syndrom | AR | AR | 2-4 |
SNRPN, UBE3A | SNRPN,UBE3A | 2-4 | |
4-8 | |||
Sequenzierung des UBE3A-Gens | UBE3A | UBE3A | 2-4 |
Angiotensin 1 konvertierendes Enzym | ACE | ACE | 1-2 |
ANK3 | ANK3 | ||
RSPO4 | RSPO4 | 3-4 | |
ANXA1-Mutation | ANXA1 | ANXA1 | 3-4 |
familiäres thorakales | ACTA2 | ACTA2 | 4-5 |
familiäres thorakales | MYLK | MYLK | 10-11 |
NGS | BCOR, BCORL1, DNMT3A, PIGA, ASXL1 | BCOR, BCORL1, DNMT3A, PIGA, ASXL1 | 2-3 |
Apparenter Mineralocorticoid-Überschuss | HSD11B2 | HSD11B2 | 2-4 |
kongenitale kontrakturale | FBN2 | FBN2 | 5-6 |
Typ 1 | VPS33B, VIPAS39 | VPS33B,VIPAS39 | 4-6 |
Typ 1 | VPS33B | VPS33B | 2-4 |
Typ 2 | VIPAS39 | VIPAS39 | 2-4 |
KARS | KARS | NULL | |
PTPRQ | PTPRQ | 3-6 | |
PKHD1, DZIP1L, PKD1 | PKHD1, DZIP1L, PKD1 | 15-16 | |
PKHD1 | PKHD1 | 2-4 | |
DZIP1L | DZIP1L | NULL | |
PKHD1L1 | PKHD1L1 | 4-6 | |
familiäre isolierte | RYR2 | RYR2 | 2-4 |
der Kindheit | WISP3 | WISP3 | 2-4 |
ARX-assoziierte Erkrankungen | ARX | ARX | 3-4 |
- | MRE11A | MRE11A | 3-5 |
AFG3L2 | AFG3L2 | NULL | |
Typ 1 | FLNB | FLNB | 2-3 |
Typ 1 | FLNB | FLNB | 2-4 |
Typ 1 | FLNB | FLNB | 2-4 |
Typ 2 | SLC26A2 | SLC26A2 | 3-4 |
Typ 3 | FLNB | FLNB | 2-3 |
Typ 3 | FLNB | FLNB | 3-4 |
Typ 3 | FLNB | FLNB | 5-6 |
NLGN1 | NLGN1 | ||
Typ 1 | PITX2 | PITX2 | 2-4 |
NGS | 4-6 | ||
Methylierungsanalyse H19-DMR und KvDMR1 | H19, KCNQ1OT1 | H19,KCNQ1OT1 | 2-4 |
Sequenzanalyse CDKN1C | CDKN1C | CDKN1C | 4-6 |
Sequenzanalyse CDKN1C | CDKN1C | CDKN1C | 2-4 |
Sequenzanalyse NLRP2 | NLRP2 | NLRP2 | 2-4 |
4-8 | |||
- | GP1BA, GP1BB, G9 | GP1BA, GP1BB, G9 | 4-6 |
Typ C | GP9 | GP9 | 2-4 |
bikuspide Aortenklappe | GATA5, NKX2-5, NOTCH1, SMAD6 | GATA5, NKX2-5, NOTCH1, SMAD6 | 4-6 |
Biotinidase-Mangel | BTD | BTD | 2-4 |
BTD | BTD | NULL | |
- | DICER1 | DICER1 | 4-8 |
- | DICER1 | DICER1 | 4-8 |
Bohring-Opitz-Syndrom | ASXL1 | ASXL1 | 2-4 |
FLNB | FLNB | 2-3 | |
FLNB | FLNB | 3-4 | |
FLNB | FLNB | 5-6 | |
IHH | IHH | 2-4 | |
Brown-Vialetto-van Laere-Syndrom | SLC52A3 | SLC52A3 | 2-4 |
Brown-Vialetto-van Laere-Syndrom | SLC52A2 | SLC52A2 | 2-4 |
BARD1 | BARD1 | 2-3 | |
BRIP1 | BRIP1 | 2-3 | |
- | ATM | ATM | 4-5 |
- | ATM | ATM | 4-6 |
- | BARD1 | BARD1 | 4-8 |
- | BRCA1, BRCA2 | BRCA1, BRCA2 | 4-8 |
- | BRCA1 | BRCA1 | 4-6 |
- | BRCA1 | BRCA1 | 2-3 |
- | BRCA2 | BRCA2 | 4-6 |
- | BRCA2 | BRCA2 | 2-3 |
- | BRIP1 | BRIP1 | 4-5 |
- | CHEK2 | CHEK2 | 4-6 |
- | CHEK2 | CHEK2 | 4-6 |
- | CHEK2 | CHEK2 | 4-6 |
- | NBN | NBN | 4-5 |
- | PALB2 | PALB2 | 2-4 |
- | RAD51C | RAD51C | 4-5 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
MLPA | PALB2, RAD50, RAD51D | PALB2, RAD50, RAD51D | 2-4 |
RAD50 | RAD50 | ||
TXNL4A | TXNL4A | 2-4 | |
Butyrylcholinesterase-Mangel | BCHE | BCHE | 4-5 |
CACH-Syndrom | EIF2B1 | EIF2B1 | 3-4 |
CACH-Syndrom | EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 | EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5 | 6-8 |
CACH-Syndrom | EIF2B2 | EIF2B2 | 4-5 |
CACH-Syndrom | EIF2B3 | EIF2B3 | 4-5 |
CACH-Syndrom | EIF2B4 | EIF2B4 | 4-5 |
CACH-Syndrom | EIF2B5 | EIF2B5 | 4-5 |
Caffey-Krankheit | COL1A1 | COL1A1 | 4-6 |
Caffey-Krankheit | COL1A1 | COL1A1 | 2-3 |
CAMRQ-Syndrom | ATP8A2 | ATP8A2 | 4-6 |
Canavan-Krankheit | ASPA | ASPA | 4-6 |
Typ 1 | PRKAR1A | PRKAR1A | 4-6 |
DSP | DSP | 2-4 | |
neuronale | 4-8 | ||
Typ 1 | PPT1 | PPT1 | 5-6 |
Typ 1, 8, 2, 6, 3 | PPT1, CLN8, TPP1, CLN6, CLN3 | PPT1, CLN8, TPP1, CLN6, CLN3 | 3-4 |
Typ 2 | TPP1 | TPP1 | 10-12 |
Typ 3 | CLN3 | CLN3 | 10-12 |
Typ 3 | CLN3 | CLN3 | 10-12 |
Typ 5 | CLN5 | CLN5 | NULL |
Typ 6 | CLN6 | CLN6 | 3-4 |
Typ 7 | MFSD8 | MFSD8 | 3-4 |
Typ 8 | CLN8 | CLN8 | 3-4 |
NDRG1 | NDRG1 | NULL | |
ERF | ERF | NULL | |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
Chloride Diarrhoe | SLC26A3 | SLC26A3 | 3-4 |
rhizomele, Typ 1 | PEX7 | PEX7 | 4-6 |
rhizomele, Typ 2 | GNPAT | GNPAT | 4-6 |
rhizomele, Typ 3 | AGPS | AGPS | 4-6 |
Typ 2 | EBP | EBP | 4-8 |
x-chromosomal, brachytelephalangealer Typ | ARSE | ARSE | 4-8 |
metaphysäre, Typ Schmid | COL10A1 | COL10A1 | 2-3 |
Typ Blomstrand | PTH1R | PTH1R | NULL |
Chorea Huntington | HTT | HTT | 4-5 |
- | NKX2-1 | NKX2-1 | 3-4 |
Chorea-Akanthozytose | VPS13A | VPS13A | 7-9 |
Chorioideremie | CHM | CHM | 4-6 |
CHM | CHM | 4-6 | |
NULL | |||
IgVH | IgVH | 2-3 | |
CHST3-assoziierte Skelettdysplasie | CHST3 | CHST3 | 2-4 |
CUBN, MMACHC, ABCD4, LMBRD1, MMADHC, MMUT, MTR, MTRR, HCFC1, TCN2 | CUBN,MMACHC,ABCD4,LMBRD1,MMADHC,MMUT,MTR,MTRR,HCFC1, TCN2 | 4-6 | |
Typ A | ERCC8 | ERCC8 | 3-4 |
Typ B | ERCC6 | ERCC6 | 3-4 |
RPS6KA3 | RPS6KA3 | NULL | |
SMARCE1 | SMARCE1 | ||
4-6 | |||
VPS13B/COH1 | VPS13B/COH1 | 4-6 | |
VPS13B/COH1 | VPS13B/COH1 | 2-3 | |
RAD21 | RAD21 | NULL | |
4-6 | |||
NGS | AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD | AKT1, KLLN, PIK3CA, PTEN, SEC23B, SDHB, SDHD | 4-6 |
Typ 1 | PTEN | PTEN | 3-4 |
Typ 1 | PTEN | PTEN | 2-3 |
Typ 1 | PTEN | PTEN | 2-3 |
Typ 2 | SDHB | SDHB | 3-4 |
Typ 3 | SDHD | SDHD | 3-4 |
Typ 4 | KLLN | KLLN | 3-4 |
Typ 5 | PIK3CA | PIK3CA | 3-4 |
Typ 6 | AKT1 | AKT1 | 3-4 |
Typ 7 | SEC23B | SEC23B | 3-4 |
SDHB | SDHB | 3-4 | |
Crigler-Najjar-Syndrom | UGT1A1 | UGT1A1 | 4-5 |
1 | CRLF1 | CRLF1 | 3-4 |
Crouzon-Syndrom | FGFR2 | FGFR2 | 3-4 |
Crouzon-Syndrom mit Akanthose nigricans | FGFR3 | FGFR3 | 3-4 |
Cumarin/Warfarin-Sensitivität | CYP4F2 | CYP4F2 | 2-3 |
Cumarin/Warfarin-Sensitivität | VKORC1 | VKORC1 | 2-3 |
Cystinose | CTNS | CTNS | 2-4 |
Cystinose | CTNS | CTNS | 2-4 |
Typ 1 | SLC3A1 und SLC7A9 | SLC3A1 und SLC7A9 | 2-4 |
Typ 1 | SLC3A1 | SLC3A1 | 2-4 |
Typ 2 und 3 | SLC7A9 | SLC7A9 | 2-4 |
- | CLCN5 | CLCN5 | 2-4 |
- | OCRL/OCRL1 | OCRL/OCRL1 | 2-4 |
NGS | 4-6 | ||
DSPP | DSPP | NULL | |
DES | DES | 2-4 | |
Diabetes insipidus | AVP, AVPR2, AQP2 | AVP, AVPR2, AQP2 | 4-6 |
Diamond-Blackfan-Anämie | GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26 | GATA1, TSR2, RPL5, RPL11, RPL35A, RPS10, RPS17, RPS19, RPS24, RPS26 | 4-6 |
Diamond-Blackfan-Anämie | RPS19 | RPS19 | 2-4 |
PHIP | PHIP | NULL | |
Dihydropyrimidin-Dehydrogenase-Mangel | DPYD | DPYD | 1 |
FLNC | FLNC | NULL | |
DNAJC6 | DNAJC6 | NULL | |
autosomal-dominant | GCH1 | GCH1 | 2-3 |
autosomal-dominant | GCH1 | GCH1 | 3-4 |
autosomal-rezessives | TH | TH | 2-4 |
autosomal-rezessives | TH | TH | 2-4 |
Dravet Syndrom | GABRG2 | GABRG2 | 3-4 |
ROBO3 | ROBO3 | 2-4 | |
DYM | DYM | 2-4 | |
- | IKBKAP | IKBKAP | 3-4 |
Typ 6 | THAP1 | THAP1 | 4-5 |
4-8 | |||
Eagle-Barret-Syndrom | CHRM3 | CHRM3 | 5-6 |
EGFR | EGFR | NULL | |
COL5A1 | COL5A1 | NULL | |
EMD | EMD | 2-4 | |
breast cancer | 1 | ||
kongenitale, durch Enteropeptidase-Mangel | TMPRSS15/PRSS7 | TMPRSS15/PRSS7 | 2-4 |
TRRAP | TRRAP | ||
ST7 | ST7 | NULL | |
SUOX | SUOX | 3-5 | |
Enzephalopathie, epileptische frühinfantile | SCN2A | SCN2A | 6-8 |
FGFR1 | FGFR1 | NULL | |
- | COL17A1 | COL17A1 | 6-8 |
- | COL7A1, KRT5 | COL7A1, KRT5 | 2-3 |
dystrophe | COL7A1 | COL7A1 | 6-8 |
junktionale | ITGB4 | ITGB4 | 2-4 |
junktionale | LAMA3 | LAMA3 | 4-5 |
junktionale, Typ nicht-Herlitz | LAMB3 | LAMB3 | 3-4 |
NGS | COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5 | COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5 | 4-8 |
Typ Herlitz | LAMC2 | LAMC2 | 3-4 |
HCN1 | HCN1 | ||
NTRK2 | NTRK2 | 4-6 | |
GRIN2B | GRIN2B | NULL | |
SLC6A1 | SLC6A1 | NULL | |
6 | |||
Typ 1 und 3B | KIF21A | KIF21A | 2-4 |
Typ 2 | PHOX2A | PHOX2A | 2-4 |
Typ 3A | TUBB3 | TUBB3 | 4-5 |
NGS | ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, FBLN1, FGF10, FGF16, FGF9, FGFR1, FGFR2, FGFR3, FMN1, GDF5, GDF6, GJA1, GLI3, GNAS, GREM1, GSC, HDAC4, HDAC8, HOXA11, HOXA13, HOXD13, IHH, KCNJ2, KIF7, ... | ARHGAP31, BHLHA9, BMP2, BMPR1B, CDH3, CHSY1, CKAP2L, DHODH, DLL4, DLX5, DOCK6, EOGT, ESCO2, FAM58A, | 4-6 |
Faktor 11-Mangel | F11 | F11 | 4-6 |
Faktor12-Mangel | F12 | F12 | 3-5 |
Faktor 13A1-Mangel | F13A1 | F13A1 | 4-6 |
Faktor V-Mangel | F5 | F5 | 3-4 |
familiäre atypische Mykobakteriose | IFNGR1 | IFNGR1 | NULL |
ADCY5 | ADCY5 | NULL | |
FANCA | FANCA | ||
3 | |||
FA2H | FA2H | 3-4 | |
FGFR3 | FGFR3 | 3-4 | |
Fibula-Aplasie und komplexe Brachydaktylie | GDF5 | GDF5 | 2-4 |
Frank-Ter Haar Syndrom | SH3PXD2B | SH3PXD2B | 6-8 |
AFF2 | AFF2 | NULL | |
ALDOB | ALDOB | ||
Fruktoseintoleranz, hereditär | ALDOB | ALDOB | 2-4 |
SZT2 | SZT2 | NULL | |
1 | |||
juveniler Typ | CTSA | CTSA | 2-4 |
SOX3 | SOX3 | 2-4 | |
Typ 1 | ENPP1 | ENPP1 | 2-4 |
generalisierten pustulösen Psoriasis | IL36RN | IL36RN | 3-4 |
SRY | SRY | 2-4 | |
NR5A1 | NR5A1 | 2-4 | |
- | AMXY | AMXY | 3-4 |
- | SRY | SRY | 2-4 |
Gonadendysgenesie | NR0B1 | NR0B1 | 2-4 |
Gonadendysgenesie | NR0B1 | NR0B1 | 2-4 |
Typ 1A | MYOT | MYOT | 2-4 |
Typ 2A | CAPN3 | CAPN3 | 2-4 |
Typ 2B | DYSF | DYSF | 2-4 |
Typ 2C | SGCG | SGCG | 2-4 |
Typ 2D | SGCA | SGCA | 2-4 |
Typ 2E | SGCB | SGCB | 2-4 |
Typ 2I | FKRP | FKRP | 2-4 |
FKTN | FKTN | 2-4 | |
APOL1 | APOL1 | 3-4 | |
4-6 | |||
Fruktose 1,6 Bisphosphatase-Mangel | FBP1 | FBP1 | 2-4 |
Fruktose 1,6 Bisphosphatase-Mangel | ALDOB, FBP1 | ALDOB, FBP1 | 2-4 |
Glucose-6-Phosphat-Dehydrogenase-Defizienz | G6PD | G6PD | 4-6 |
SLC2A1 | SLC2A1 | 3-4 | |
SLC2A1 | SLC2A1 | 3-4 | |
GSTM1, GSTP1, GSTT1 | GSTM1, GSTP1, GSTT1 | 2-3 | |
Typ 0 | GYS2 | GYS2 | 2-4 |
Typ 1B/1C | SLC37A4/G6PT1 | SLC37A4/G6PT1 | 2-4 |
Typ 2 | GAA | GAA | 2-4 |
Typ 2 | GAA | GAA | 2-4 |
Typ 3b | AGL | AGL | 2-4 |
Typ 4 | GBE1 | GBE1 | 2-4 |
Typ 5 | PYGM | PYGM | 2-4 |
Typ 6 | PYGL | PYGL | 2-4 |
Typ 7 | PFKM | PFKM | 2-4 |
Typ 9A | PHKA2 | PHKA2 | 2-4 |
Typ 9B | PHKB | PHKB | 2-4 |
NGS | AGL, FBP1, G6PC, GAA, GBE1, PHKA2, PHKB, PHKG2, PYGM, SLC2A2, SLC37A4, ALDOA, ENO3, EPM2A, FBP2, GYG1, GYG2, GYS1, GYS2, LAMP2, LDHA, LDHB, NHLRC1, PFKL, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKG1, PRKAG2, PRKAG3, PYGL | AGL,FBP1,G6PC,GAA,GBE1,PHKA2,PHKB,PHKG2,PYGM,SLC2A2,SLC37A4,ALDOA,ENO3,EPM2A,FBP2,GYG1,GYG2,GYS1,GYS | 4-8 |
Typ 11 | SLC2A2 | SLC2A2 | 2-4 |
Typ 1A | G6PC1/G6PC | G6PC1/G6PC | 2-4 |
Typ 1-3 | GLB1 | GLB1 | 14-16 |
PTCH1 | PTCH1 | ||
Gray-platelet-Syndrom | NBEAL2 | NBEAL2 | 8-10 |
GLI3 | GLI3 | 2-3 | |
GRIN1 | GRIN1 | NULL | |
X-Chromosomal | POU3F4 | POU3F4 | 2-4 |
- | BRAF | BRAF | 2 |
NGS | BRAF, KLF2, CDKN1B | BRAF, KLF2, CDKN1B | 2 |
GATA3 | GATA3 | NULL | |
GATA3 | GATA3 | NULL | |
HECW2 | HECW2 | NULL | |
Prognosemarker | IL-28B | IL-28B | 2-3 |
NGS | ABCB11, AGL, APC, CDKN2A, FAH, G6PC, HMBS, PPOX, PRKAR1A, SPRTN, BRCA2, BRIP1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, SLX4, XRCC2 | ABCB11, AGL, APC, CDKN2A, FAH, G6PC, HMBS, PPOX, PRKAR1A, SPRTN, BRCA2, BRIP1, FANCA, FANCB, FANCC, | 4-8 |
PMP22 | PMP22 | 3-4 | |
PMP22 | PMP22 | 3-4 | |
DNMT1 | DNMT1 | NULL | |
KCNN4, PIEZO1, SLC4A1, RHAG, RHCE, RHD, ABCB6 und SLC2A1 | KCNN4, PIEZO1, SLC4A1, RHAG, RHCE, RHD, ABCB6 und SLC2A1 | ||
verschiedene Gene für HPS | verschiedene Gene für HPS | 4-8 | |
Typ 1 | HPS1 | HPS1 | 2-4 |
Typ 3 | HPS3 | HPS3 | 2-4 |
Typ 5 | HPS5 | HPS5 | 2-4 |
Typ 6 | HPS6 | HPS6 | 2-4 |
Typ 8 | BLOC1S3 | BLOC1S3 | 2-4 |
MED13L | MED13L | NULL | |
verschiedene Gene | verschiedene Gene | NULL | |
- | EDN3 | EDN3 | 3-4 |
- | EDNRB | EDNRB | 3-4 |
Histaminintoleranz | ABP1 | ABP1 | 4-6 |
Histaminintoleranz | HNMT | HNMT | 4-5 |
HIV-1-Wirtsresistenz | CCR5 | CCR5 | 2-3 |
4-6 | |||
Holoprosenzephalie | GLI2 | GLI2 | 7-8 |
Holoprosenzephalie | PTCH1 | PTCH1 | 4-6 |
Holoprosenzephalie | SHH | SHH | 4-6 |
Holoprosenzephalie | SIX3 | SIX3 | 8-9 |
Holoprosenzephalie | TGIF | TGIF | 7-8 |
Holoprosenzephalie | ZIC2 | ZIC2 | 8-10 |
Holt-Oram-Syndrom | TBX5 | TBX5 | 2-4 |
Holt-Oram-Syndrom | TBX5 | TBX5 | 2-4 |
Homocysteinämie | CBS | CBS | 4-6 |
- | DCN | DCN | 2-4 |
- | SLC4A11 | SLC4A11 | 2-4 |
Hornhautdystrophie | ZEB1 | ZEB1 | 2-4 |
Hutchinson-Gilford-Syndrom | LMNA | LMNA | 3-4 |
KYNU | KYNU | 5-6 | |
X-chromosomal | L1CAM | L1CAM | 3-5 |
Hyper-IgE-Syndrom | DOCK8 | DOCK8 | 4-8 |
Hyper-IgE-Syndrom | DOCK8 | DOCK8 | 4-8 |
Hyper-IgE-Syndrom | STAT3 | STAT3 | 4-8 |
Hyper-IgE-Syndrom | TYK2 | TYK2 | 4-8 |
NGS | DOCK8, STAT3, TYK2 | DOCK8, STAT3, TYK2 | 4-8 |
Hypereosinophilie-Syndrom | FIP1L1, PDGFRA | FIP1L1, PDGFRA | 3-4 |
SCN4A | SCN4A | 3-5 | |
CASR | CASR | 2-4 | |
Typ 2 | GNA11 | GNA11 | 2-4 |
Typ 3 | AP2S1 | AP2S1 | 2-4 |
Typ1 | CASR | CASR | 2-4 |
Hyperlipoproteinämie | LPL | LPL | 2-4 |
Typ 3 | APOE | APOE | 2-3 |
Typ 1 | AGXT | AGXT | 2-4 |
Typ 1 | AGXT | AGXT | 2-4 |
Typ 2 | GRHPR | GRHPR | 2-4 |
Typ 2 | GRHPR | GRHPR | 2-4 |
Typ 3 | HOGA1/DHDPSL | HOGA1/DHDPSL | 2-4 |
SLC26A1 | SLC26A1 | 2-4 | |
4-6 | |||
TRPV6 | TRPV6 | 2-4 | |
PIGV | PIGV | NULL | |
Typ 2 | ALDH4A1 | ALDH4A1 | 3-4 |
4-6 | |||
Hypoalphalipoproteinämie | LCAT | LCAT | 2-4 |
Hypochondrogenesie | COL2A1 | COL2A1 | 4-6 |
Hypochondrogenesie | COL2A1 | COL2A1 | 4-6 |
Hypochondrogenesie | COL2A1 | COL2A1 | 2-3 |
AKT2 | AKT2 | 2-4 | |
ACAT1, CA5A, FBP1, G6PC, GYS1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, PC, PCK1, PCK2, PYGL, SLC16A1 | ACAT1, CA5A, FBP1, G6PC, GYS1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, PC, PCK1, PCK2, PYGL, SLC16A1 | ||
NGS | 4-8 | ||
NGS | 4-6 | ||
kongenitale Katarakt | FAM126A | FAM126A | 4-6 |
SLC34A3 | SLC34A3 | 2-4 | |
SLC34A1 | SLC34A1 | 2-4 | |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
autosomal-dominant | FGF23 | FGF23 | 2-4 |
NGS | ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3 | ARNT2, CDON, GLI2, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1, RBM28, SOX2, SOX3 | 4-8 |
Typ 1 | LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR | LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR | 2-4 |
Typ 1 | POU1F1 | POU1F1 | 2-4 |
Typ 3 | LHX3 | LHX3 | 2-4 |
Typ 4 | LHX4 | LHX4 | 2-4 |
Typ 5 | HESX1 | HESX1 | 2-4 |
Typ 2 | SLC38A8 | SLC38A8 | 3-4 |
hypoplastisches Linksherz-Syndrom | NKX2-5 | NKX2-5 | 2-4 |
Typ 1 | SLC22A12 | SLC22A12 | 2-4 |
Typ 2 | SLC2A9 | SLC2A9 | 2-4 |
MLPA | 2-4 | ||
NGS | HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6 | HFE, HFE2/HJV, HAMP, TFR2, SLC40A1, FTL, FTH1 und BMP6 | 4-8 |
Typ 1 | HFE | HFE | 4-8 |
Typ 2A | HFE2/HJV | HFE2/HJV | 4-8 |
Typ 2B | HAMP | HAMP | 4-8 |
Typ 3 | TFR2 | TFR2 | 4-8 |
Typ 4 | SLC40A1 | SLC40A1 | 2-4 |
Typ 5 | BMP6 | BMP6 | 4-8 |
Hämophilie B | F9 | F9 | 4-6 |
NGS | ABCA12, ALOX12B, ALOXE3, CYP4F22, KRT1, KRT10, LIPN, NIPAL4, STS, TGM1 und weitere | ABCA12, ALOX12B, ALOXE3, CYP4F22, KRT1, KRT10, LIPN, NIPAL4, STS, TGM1 und weitere | 4-8 |
X-chromosomale | STS | STS | 5-8 |
X-chromosomale | STS | STS | 5-8 |
ADCY10 | ADCY10 | 2-4 | |
IGF1R, IGFBP3, IGFALS | IGF1R, IGFBP3, IGFALS | 2-4 | |
IL3RA | IL3RA | 2-4 | |
kombinierter schwerer | JAK3 | JAK3 | 4-6 |
kombinierter schwerer | CD247, CD3D/E, CD45, CORO1A, DCLRE1C , IL2RG, IL7R | CD247, CD3D/E, CD45, CORO1A, DCLRE1C ,IL2RG, IL7R | 4-8 |
kombinierter schwerer | ZAP70 | ZAP70 | 6-8 |
Immundefizienz | IRAK4 | IRAK4 | 6-8 |
Immunglobulin A (IgA)-Mangel | TNFRSF13B | TNFRSF13B | 4-6 |
ITGA2 | ITGA2 | 2-3 | |
DEAF1 | DEAF1 | NULL | |
CNKSR2 | CNKSR2 | NULL | |
SETD5 | SETD5 | NULL | |
Interleukin-1 Rezeptor-Antagonist-Mangel | IL1RN | IL1RN | 3-5 |
NULL | |||
Isovalerianazidämie | IVD | IVD | 5-6 |
CACNB4 | CACNB4 | 34-35 | |
CACNG4 | CACNG4 | NULL | |
- | FGFR1, PROKR2, PROK2, KISS1R, NELF, GNRH1, GNRHR | FGFR1, PROKR2, PROK2, KISS1R, NELF, GNRH1, GNRHR | 3-4 |
- | KISS1R | KISS1R | 2-4 |
- | TACR3 | TACR3 | 2-4 |
NGS | 4-8 | ||
Typ 1 | KAL1/ANOS1 | KAL1/ANOS1 | 2-4 |
Typ 1 | KAL1/ANOS1 | KAL1/ANOS1 | 2-4 |
Typ 2 | FGFR1 | FGFR1 | 2-4 |
Typ 3 | PROKR2 | PROKR2 | 2-4 |
Typ 5 | CHD7 | CHD7 | 2-4 |
Typ 5 | CHD7 | CHD7 | 2-4 |
Typ 6 | FGF8 | FGF8 | 2-4 |
TNNI3 | TNNI3 | 2-4 | |
dilatativ / hypertrophe | NEXN | NEXN | 2-4 |
dilatative | ACTN2 | ACTN2 | NULL |
dilatative | TNNT2 | TNNT2 | 2-4 |
dilatative | MYH7 | MYH7 | 2-4 |
dilatative oder hypertrophe | MYBPC3 | MYBPC3 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | DSG2 | DSG2 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | PKP2 | PKP2 | 2-4 |
familiäre isolierte arrhythmogene ventrikuläre | PKP2 | PKP2 | 2-4 |
hypertrophe | TPM1 | TPM1 | NULL |
hypertrophe | RBM20 | RBM20 | 2-4 |
LDB3 | LDB3 | NULL | |
MYH6 | MYH6 | 2-4 | |
MYOM1 | MYOM1 | 2-4 | |
PLN | PLN | NULL | |
SLC25A3 | SLC25A3 | 3-4 | |
NGS | ACTC1, ACTN2, ALPK3, ANKRD1, CALR3, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PLN, PRKAG2, SLC25A4, SOS1, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL | ACTC1, ACTN2, ALPK3, ANKRD1, CALR3, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, LDB3, MYBPC3, MYH6, MYH7, M | 4-8 |
LMNA | LMNA | 2-4 | |
TTN | TTN | NULL | |
NHS | NHS | 2-4 | |
Typ 17 | CRYBB1 | CRYBB1 | 2-4 |
Typ 2 | CRYGC | CRYGC | 2-4 |
Typ 3 | CRYBB2 | CRYBB2 | 2-4 |
Typ 31 | CHMP4B | CHMP4B | 2-4 |
Typ 4 | CRYGD | CRYGD | 2-4 |
Typ 9 | CRYAA | CRYAA | 2-4 |
Kaudale Regressions-Sequenz | VANGL1 | VANGL1 | 5-6 |
Kearns-Sayre-Syndrom | MTTL2 | MTTL2 | 3-4 |
NGS | ACADM, ACADVL, HADHA, HADHB, HMGCL, HMGCS2 | ACADM,ACADVL,HADHA,HADHB,HMGCL,HMGCS2 | 4-8 |
3-Hydroxyisobutyrat-Dehydrogenase-Mangel | HIBADH | HIBADH | 2-4 |
NGS | ACAT1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, SLC16A1 | ACAT1,GYS2,HIBADH,HMGCL,HSD17B10,OXCT1,SLC16A1 | 2-4 |
Ketothiolase-Mangel | ACAT1 | ACAT1 | 2-4 |
MGP | MGP | 4-6 | |
ACAN, FGFR3, GH1, GHR, GHRHR, GHSR, IGF1, IGF1R, IGFALS, IHH, NPR2, SHOX, STAT5B | ACAN,FGFR3,GH1,GHR,GHRHR,GHSR,IGF1,IGF1R,IGFALS,IHH,NPR2,SHOX,STAT5B | 4-6 | |
ACAN, COL10A1, COL2A1, COMP, FGFR3, IHH, NPR2, PTH1R, PTHLH, ROR2, SHOX | ACAN,COL10A1,COL2A1,COMP,FGFR3,IHH,NPR2,PTH1R,PTHLH,ROR2,SHOX | 4-6 | |
BRAF, CREBBP, CUL7, DHCR7, HRAS, NIPBL, PTPN11 | BRAF,CREBBP,CUL7,DHCR7,HRAS,NIPBL,PTPN11 | 4-6 | |
diastrophischer | SLC26A2 | SLC26A2 | 2-4 |
Typ 1 | GDF6 | GDF6 | 8-20 |
Typ 3 | GDF3 | GDF3 | 8-20 |
ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, TET2, TP53, U2AF1 | ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, T | 2 | |
ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, TET2, TP53, U2AF1 | ASXL1, BCOR, BCORL1, CBL, DNMT3A, GNAS, IDH1, IDH2, JAK2, KRAS, NRAS, PPM1D, PTPN11, SF3B1, SRSF2, T | 2 | |
NGS | RCA2 (FANCD1), BRIP1 (FANCJ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, MPL, SBDS... | RCA2 (FANCD1), BRIP1 (FANCJ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, | 4-8 |
POLE1 | POLE1 | 4-6 | |
hereditäres nicht polypöses | PMS2 | PMS2 | 4-6 |
hereditäres nicht polypöses | NULL | ||
Immunhistochemie (MLH1, MSH2, MSH6, PMS2) | 3-6 | ||
NGS | MLH1, MSH2, MSH6, PMS2, EPCAM | MLH1, MSH2, MSH6, PMS2, EPCAM | 4-8 |
CARS2 | CARS2 | ||
kombinierter Faktor 5 und 8-Mangel | LMAN1 | LMAN1 | 4-6 |
verschiedene Gene für CFEOM | verschiedene Gene für CFEOM | 4-8 | |
kongenitalse malabsorptive Diarrhoe | NEUROG3 | NEUROG3 | 4-8 |
1-2 | |||
LARGE assoziierte Erkrankungen | LARGE | LARGE | 5-6 |
amyotrophe | FUS | FUS | 8 |
amyotrophe | CHCHD10 | CHCHD10 | 2-4 |
amyotrophe | KIF5A | KIF5A | 3-4 |
amyotrophe | SOD1 | SOD1 | 3-4 |
amyotrophe 14 | VCP | VCP | 2-6 |
amytrophe | ALS2, ANG, ATXN2, DAO, FIG4, FUS, KIF5A, OPTN, PFN1, PON1, ... | ALS2, ANG, ATXN2,DAO, FIG4, FUS, KIF5A, OPTN, PFN1, PON1, ... | 4-8 |
Primäre | PLS | PLS | NULL |
Typ 2 | ALS2 | ALS2 | 1-9 / 100 000 |
- | DTHD1 | DTHD1 | 3-4 |
Typ 1 | GUCY2D | GUCY2D | 4-5 |
Typ 10 | CEP290 | CEP290 | 3-5 |
Typ 11 | IMPDH1 | IMPDH1 | 3-4 |
Typ 12 | RD3 | RD3 | 3-4 |
Typ 13 | RDH12 | RDH12 | 3-4 |
Typ 14 | LRAT | LRAT | 3-4 |
Typ 15 | TULP1 | TULP1 | 3-4 |
Typ 16 | KCNJ13 | KCNJ13 | 3-4 |
Typ 2 | RPE65 | RPE65 | 3-4 |
Typ 3 | SPATA7 | SPATA7 | 3-4 |
Typ 4 | AIPL1 | AIPL1 | 4-6 |
Typ 5 | LCA5 | LCA5 | 3-4 |
Typ 6 | RPGRIP1 | RPGRIP1 | 3-4 |
Typ 6 | RPGRIP1 | RPGRIP1 | 3-4 |
Typ 7 | CRX | CRX | 3-4 |
Typ 7 | GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26) | GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26) | 3-4 |
Typ 8 | CRB1 | CRB1 | 4-5 |
Typ 8 | AIPL1, CRB1, CRX, LCA5, RPE65 | AIPL1, CRB1, CRX, LCA5, RPE65 | 2-4 |
Typ 9 | NMNAT1 | NMNAT1 | 3-4 |
Lebersche Hereditäre Optikusneuropathie | MT-ND1, MT-ND4, MT-ND6 | MT-ND1, MT-ND4, MT-ND6 | 2-4 |
Leigh-Syndrom | SURF1 | SURF1 | 2-4 |
COL4A6 | COL4A6 | 2-4 | |
EL | EL | ||
GABRB3 | GABRB3 | 2-4 | |
Leukenzephalopathie | 4-8 | ||
megalenzephalen, mit subkortikalen Zysten | HEPACAM | HEPACAM | 8-20 |
megalenzephalen, mit subkortikalen Zysten | MLC1 | MLC1 | 8-20 |
mit axonalen Sphäroiden und pigmentierter Glia | CSF1R | CSF1R | 8-20 |
mit Hirnstamm- und Rückenmark | DARS2 | DARS2 | 8-12 |
zystische, ohne Megalenzephalie | RNASET2 | RNASET2 | 8-20 |
CEBPA, cKIT | CEBPA, cKIT | NULL | |
GATA2 | GATA2 | NULL | |
qualitativ | PML-RARA | PML-RARA | 1 |
quantitativ | PML-RARA | PML-RARA | 1-2 |
NGS | ASXL1, CALR, CBL, CSF3R, ETNK1, EZH2, JAK2, KRAS, MPL, NRAS, RUNX1, SETBP1, SRSF2, TET2, U2AF1 | ASXL1, CALR, CBL, CSF3R, ETNK1, EZH2, JAK2, KRAS, MPL, NRAS, RUNX1, SETBP1, SRSF2, TET2, U2AF1 | 2 |
- | DNMT3A | DNMT3A | 2 |
- | NRAS | NRAS | 2 |
NGS | JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53 | JAK2, JAK1, CRLF2, KRAS, NRAS, PTPN11, IKZF1, ASXL1, ARID2, CHD2, TP53 | 2 |
- | TP53 | TP53 | 2 |
LH-Resistenz | LHCGR | LHCGR | 2-4 |
Typ 1 | LIS1/PAFAH1B1 | LIS1/PAFAH1B1 | 4-5 |
Typ 2 | RELN | RELN | 8-12 |
X-chromosomal | DCX | DCX | 8-9 |
TUBA1A | TUBA1A | NULL | |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR1 | TGFBR1 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR2 | TGFBR2 | 2-4 |
Loeys-Dietz-Syndrom | TGFBR2 | TGFBR2 | 3-5 |
LRP5 | LRP5 | 2-3 | |
- | IGH/BCL2 | IGH/BCL2 | 2 |
NGS | BCL2, CREBBP, EP300, EZH2, KMT2D (MLL2), MEF2B, TP53 | BCL2, CREBBP, EP300, EZH2, KMT2D (MLL2), MEF2B, TP53 | 2 |
NGS | DNMT3A, IDH2, RHOA, STAT3, TET2, TP53 | DNMT3A, IDH2, RHOA, STAT3, TET2, TP53 | 2 |
lysinurische Proteinintoleranz | SLC7A7 | SLC7A7 | 2-4 |
- | CDH1 | CDH1 | 4-6 |
Majeed-Syndrom | LPIN2 | LPIN2 | 4-6 |
NULL | |||
Makuladystrophie, vitelliforme | BEST1 | BEST1 | 3-4 |
PLCB1 | PLCB1 | NULL | |
Marfan-Syndrom | FBN1 | FBN1 | 2-4 |
Marfan-Syndrom | FBN1 | FBN1 | 2-4 |
NGS | FBN1, TGFBR1, TGFBR2 | FBN1,TGFBR1,TGFBR2 | 4-6 |
NGS | ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1 | ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1 | 2 |
GNAS | GNAS | 4-6 | |
Medium-chain-Acyl-CoA-Dehydrogenase-Mangel | ACADM | ACADM | 2-4 |
Medium-chain-Acyl-CoA-Dehydrogenase-Mangel | ACADM | ACADM | 2-4 |
AKT3 | AKT3 | NULL | |
4 | CDT1 | CDT1 | NULL |
Meier-Gorlin-Syndrom 1 | ORC1 | ORC1 | 7-8 |
MELAS-Syndrom | MT-TL1 | MT-TL1 | 2-4 |
FLNA | FLNA | 4-6 | |
FLNA | FLNA | 6-8 | |
ATRX | ATRX | NULL | |
AUTS2 | AUTS2 | NULL | |
4-8 | |||
TAOK2 | TAOK2 | ||
TRIO | TRIO | NULL | |
MERRF-Syndrom | MTTK | MTTK | 2-4 |
metachromatische Leukodystrophie | ARSA | ARSA | 4-6 |
Typ Schmid | COL10A1 | COL10A1 | 3-4 |
HIBCH | HIBCH | 2-4 | |
Methionin-Adenosyltransferase-Mangel | MAT1A | MAT1A | 6-8 |
Methylmalonat-Semialdehyd-Dehydrogenase-Mangel | ALDH6A1 | ALDH6A1 | 6-7 |
cbl C | MMACHC | MMACHC | 2-4 |
cbl C | MMACHC | MMACHC | 2-4 |
cbl D | MMADHC | MMADHC | 2-4 |
Methylmalonyl-CoA-Mutase-Mangel | MMUT | MMUT | 6-8 |
Sequenzanalyse MMUT | MMUT | MMUT | 2-4 |
familiäre hemiplegische | ATP1A2, CACNA1A, NOTCH3, SCN1A | ATP1A2, CACNA1A, NOTCH3, SCN1A | 4-8 |
familiäre hemiplegische 1 | CACNA1A | CACNA1A | 4-6 |
familiäre hemiplegische 2 | ATP1A2 | ATP1A2 | 8-10 |
familiäre hemiplegische 3 | SCN1A | SCN1A | 4-5 |
Mikrolissenzephalie | NDE1 | NDE1 | NULL |
SLC25A22 | SLC25A22 | 2-4 | |
LIG4 | LIG4 | 4-6 | |
4-8 | |||
- | CEP63 | CEP63 | 3-5 |
- | IER3IP1 | IER3IP1 | 3-5 |
- | KIF11 | KIF11 | 3-5 |
- | MYO16 | MYO16 | 3-5 |
- | PCNT | PCNT | 3-5 |
- | RBBP8 | RBBP8 | 4-6 |
- | RTTN | RTTN | 3-5 |
- | SLC25A19 | SLC25A19 | 3-5 |
- | TRAPPC9 | TRAPPC9 | 3-5 |
- | TUBB2B | TUBB2B | 3-5 |
MCPH1 | MCPH1 | MCPH1 | 3-5 |
MCPH2 | WDR62 | WDR62 | 3-5 |
MCPH3 | CDK5RAP2 | CDK5RAP2 | 3-5 |
MCPH4 | CASC5 | CASC5 | 3-5 |
MCPH4, MCPH9 | CEP152 | CEP152 | 3-5 |
MCPH5 | ASPM | ASPM | 3-5 |
MCPH6 | CENPJ | CENPJ | 3-5 |
MCPH8 | CEP135 | CEP135 | 5-7 |
Seckel syndrome | ATR | ATR | 3-5 |
- | PLK4 | PLK4 | 2-4 |
LMNB1 | LMNB1 | ||
SPATA5 | SPATA5 | NULL | |
QARS | QARS | NULL | |
mitochondrialer trifunktionaler Protein-Mangel | HADHB | HADHB | 4-8 |
FBXL4 | FBXL4 | NULL | |
MNGIE-Syndrom | TYMP, POLG, MGME1, RRM2B | TYMP, POLG, MGME1, RRM2B | 4-6 |
MNGIE-Syndrom | TYMP | TYMP | 2-4 |
4-8 | |||
Typ A | MOCS1 | MOCS1 | 9-10 |
Typ B | MOCS2 | MOCS2 | 9-10 |
Typ C | GPHN | GPHN | 4-8 |
KRT86 | KRT86 | 4-8 | |
Morbus Darier | ATP2A2 | ATP2A2 | 4-6 |
Morbus Krabbe | GALC | GALC | 6-10 |
NGS | ACVRL1, ENG, SMAD4, GDF2 | ACVRL1, ENG, SMAD4, GDF2 | 4-6 |
Typ 1 | ENG | ENG | 4-6 |
Typ 1,2 | ENG, ACVRL1 | ENG, ACVRL1 | 2-3 |
Typ 2 | ACVRL1 | ACVRL1 | 4-6 |
Typ 5 | GDF2 | GDF2 | 4-6 |
Morbus Wilson | ATP7B | ATP7B | 2-4 |
Morbus Wilson | ATP7B | ATP7B | 2-4 |
NGS | ATP7B | ATP7B | 2-4 |
NULL | |||
Mowat-Wilson-Syndrom | ZEB2/ZFHX1B | ZEB2/ZFHX1B | 5-6 |
Muenke-Syndrom | FGFR3 | FGFR3 | 1-2 |
multi-drug-Resistenz | ABCB1/MDR1 | ABCB1/MDR1 | 2-3 |
PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS | PLAGL1,GRB10,MEST,H19,KCNQ1OT1,DLK1,MEG3,RTL1,SNRPN,PEG3,GNAS | 2-4 | |
NGS | BRAF, DIS3, FAM46C, KRAS, NRAS, TP53 | BRAF, DIS3, FAM46C, KRAS, NRAS, TP53 | 2 |
multiples Pterygium-Syndrom | CHRNG | CHRNG | 4-6 |
Muskel-Augen-Gehirn-Krankheit | POMGNT1 | POMGNT1 | 5-6 |
RAPSN | RAPSN | NULL | |
kongenitales | CHRND | CHRND | 5-6 |
MUSK | MUSK | NULL | |
NGS | ASXL1, CBL, EZH2, ETNK1, IDH2, JAK2, KIT, SETBP1, SF3B1, TET2 | ASXL1,CBL, EZH2, ETNK1, IDH2, JAK2, KIT, SETBP1, SF3B1, TET2 | 2 |
- | AMH | AMH | 2-3 |
- | AMHR2 | AMHR2 | 2-3 |
- | AMH, AMHR2 | AMH,AMHR2 | 3-4 |
NGS | PDGFRB, NOTCH3 | PDGFRB, NOTCH3 | 4-8 |
rekurrente, genetisch bedingte | LPIN1 | LPIN1 | 2-4 |
juvenile | CACNA1A | CACNA1A | 34-35 |
juvenile | CACNA2D2 | CACNA2D2 | 8-12 |
CLCN2 | CLCN2 | NULL | |
SGCA, SGCB, SGCD, SGCG und FKRP | SGCA, SGCB, SGCD, SGCG und FKRP | 4-6 | |
4-6 | |||
4-6 | |||
SGCA, SGCB, SGCD, SGCG und FKRP | SGCA, SGCB, SGCD, SGCG und FKRP | ||
SEPN1 | SEPN1 | 3-4 | |
distale | ACTA1, ANO5, CAV3, CRYAB, DES, DYSF, FHL1, FLNC, GNE, KLHL9, LDB3, MATR3, MYH14, MYH7, MYOT, NEB, RYR1, TCAP, TIA1, TPM3, VCP | ACTA1,ANO5,CAV3,CRYAB,DES,DYSF,FHL1,FLNC,GNE,KLHL9,LDB3,MATR3,MYH14,MYH7,MYOT,NEB,RYR1,TCAP,TIA1,TPM | 4-8 |
metabolische | AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere | AGL,CPT2,ETFA,ETFB,ETFDH,GAA,GBE1,LPIN1,PFKM,PYGM,RRM2B,SLC22A5 und weitere | 4-8 |
NGS | verschiedene Gene für MYOP | verschiedene Gene für MYOP | 4-8 |
Becker, Thomsen | CLCN1 | CLCN1 | 2-4 |
Becker, Thomsen | CLCN1 | CLCN1 | 2-4 |
X-linked | MTM1 | MTM1 | 3-4 |
N-Acetylglutamat-Synthetase-Mangel | NAGS | NAGS | 2-4 |
N-Acetyltransferase 2-Mangel | NAT2 | NAT2 | 2-3 |
NACC1 | NACC1 | NULL | |
ANKLE2 | ANKLE2 | NULL | |
DCHS2 | DCHS2 | NULL | |
DNAJB9 | DNAJB9 | NULL | |
NRK | NRK | NULL | |
PIP5K1A | PIP5K1A | NULL | |
PLEKHG4 | PLEKHG4 | NULL | |
PRDM9 | PRDM9 | NULL | |
SRSF5 | SRSF5 | NULL | |
TOE1 | TOE1 | NULL | |
DNAJC3 | DNAJC3 | NULL | |
NGS | diverse Gene | diverse Gene | 4-8 |
autosomal dominant 2 | PDE6B | PDE6B | 4-6 |
Autosomal dominant, Typ 1 | RHO | RHO | 4-6 |
Autosomal dominant, Typ 3 | GNAT1 | GNAT1 | 4-6 |
autosomal-rezessiv, Typ 1B | GRM6 | GRM6 | 4-5 |
autosomal-rezessiv, Typ 1C | TRPM1 | TRPM1 | 4-5 |
autosomal-rezessiv, Typ 1E | GPR179 | GPR179 | 4-5 |
autosomal-rezessiv, Typ 1F | LRIT3 | LRIT3 | 3-4 |
autosomal-rezessiv, Typ 2B | CABP4 | CABP4 | 4-5 |
Typ 1D | SLC24A1 | SLC24A1 | 3-4 |
X-chromosomal, Typ 1A | NYX | NYX | 3-4 |
X-chromosomal, Typ 2A | CACNA1F | CACNA1F | 4-5 |
Nagel-Patella-Syndrom | LMX1B | LMX1B | 3-4 |
Nagel-Patella-Syndrom | LMX1B | LMX1B | 2-3 |
NULL | |||
Natrium-Diarrhoe, kongenitale | SPINT2 | SPINT2 | NULL |
- | KLHL41 | KLHL41 | 4-6 |
Typ Amish | TNNT1 | TNNT1 | 4-5 |
NPHP1 | NPHP1 | NPHP1 | 2-5 |
NPHP1 | NPHP1 | NPHP1 | 2-3 |
Netherton-Syndrom | SPINK5 | SPINK5 | 4-5 |
APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR | APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B, LYZ, PRNP, TTR | 4-6 | |
4-8 | |||
Typ 2 | 4-8 | ||
GNAO1 | GNAO1 | ||
Typ Fiskerstrand | ABHD12 | ABHD12 | 3-4 |
kongenital schwere 3 | HAX1 | HAX1 | 4-6 |
kongenital schwere 6 | JAGN1 | JAGN1 | 4-8 |
kongenitale schwere 1 | ELANE/ELA2 | ELANE/ELA2 | 2-4 |
somatische Mutationen | CSF3R, TP53 | CSF3R, TP53 | 2 |
X-chromosomal | WAS | WAS | 4-8 |
NGS | CSF3R, SETBP1, ASXL1 | CSF3R, SETBP1, ASXL1 | 2 |
NFE2L3 | NFE2L3 | NULL | |
NULL | |||
1-2 | |||
nicht-ketotische Hyperglycinämie | GCSH | GCSH | 3-4 |
NGS | 4-8 | ||
pappilär | MET | MET | 2-4 |
NGS | BAP1, FH, FLCN, MET, MITF, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL | BAP1, FH, FLCN, MET, MITF, PTEN, SDHB, SDHC, SDHD, TP53, TSC1, TSC2, VHL | 4-6 Wochen |
Nijmegen-Chromosomenbruch-Syndrom | NBN | NBN | 4-5 |
Nijmegen-Chromosomenbruch-Syndrom | NBN | NBN | 4-5 |
NBN | NBN | 2-4 Wochen | |
NGS | NF1, NF2, CBL, NRAS, KRAS, PTPN11 | NF1, NF2, CBL, NRAS, KRAS, PTPN11 | 4-6 |
NDP | NDP | 2-4 | |
verschiedene Gene für NYS | verschiedene Gene für NYS | 4-8 | |
Typ 1 | FRMD7 | FRMD7 | 2-4 |
Typ 1 | FRMD7 | FRMD7 | 2-4 |
Typ 6 | GPR143 | GPR143 | 2-4 |
LRIG2 | LRIG2 | NULL | |
Okihiro-Syndrom | SALL4 | SALL4 | 4-6 |
Ornithintranscarbamylase-Mangel | OTC | OTC | 5-8 |
Ornithintranscarbamylase-Mangel | OTC | OTC | 3-4 |
NGS | COL1A1, COL1A2, CRTAP, FKBP10, LEPRE1, PPIB, SERPINF1, .. | COL1A1,COL1A2,CRTAP,FKBP10,LEPRE1,PPIB,SERPINF1,.. | 4-8 |
Typ 12 | SP7 | SP7 | 4-8 |
NGS | LMNA, MAFB, MMP14, MMP2, NOTCH2, TNFRSF11A, TREM2, TYROBP, ZMPSTE24 | LMNA, MAFB, MMP14, MMP2, NOTCH2, TNFRSF11A, TREM2, TYROBP, ZMPSTE24 | 4-6 |
Typ 2, 4 | CLCN7 | CLCN7 | 5-6 |
Typ 1 | TCIRG1 | TCIRG1 | 5-6 |
Typ 2 | TNFSF11 | TNFSF11 | 5-6 |
Typ 5 | OSTM1 | OSTM1 | 5-6 |
Typ 7 | TNFRSF11A | TNFRSF11A | 5-6 |
X-chromosomal | PLS3 | PLS3 | 4-8 |
LRP5 | LRP5 | 3-4 | |
FLNA | FLNA | NULL | |
2 | KRT17 | KRT17 | 4-8 |
NGS | KRT16, KRT17, KRT6A, KRT6B, KRT6C | KRT16, KRT17, KRT6A, KRT6B, KRT6C | 4-8 |
NGS | BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11 | BRCA1, BRCA2, CDKN2A, MEN1, PALB2, PALLD, PRSS1, TP53, SPINK1, STK11 | 4-8 |
- | CDKN2A | CDKN2A | 3-4 |
Pankreatische Colipase-Mangel | PNLIP | PNLIP | 2-4 |
PRSS1, SPINK1, CTRC | PRSS1, SPINK1, CTRC | 2-4 | |
Pankreatitis, hereditär | CFTR | CFTR | 1-3 |
Pankreatitis, hereditär | CFTR | CFTR | 1-3 |
Pankreatitis, hereditär | PRSS1 | PRSS1 | 3-4 |
Pankreatitis, hereditär | SPINK1 | SPINK1 | 3-4 |
SCN4A | SCN4A | 3-5 | |
PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1 | PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1 | 2-3 | |
17 | VPS35 | VPS35 | 4-8 |
23 | VPS13C | VPS13C | 4-8 |
frühkindlich hypotonisch | SLC18A2 | SLC18A2 | 4-8 |
Parkinson-Krankheit | LRRK2 | LRRK2 | 4-8 |
Parkinson-Krankheit | diverse | diverse | 4-8 |
Parkinson-Krankheit | PINK1 | PINK1 | 4-8 |
Parkinson-Krankheit | PINK1 | PINK1 | 4-8 |
Parkinson-Krankheit 1,4 | SNCA | SNCA | 4-8 |
Typ 2 | PRKN | PRKN | 4-8 |
paroxysmale nächtliche Hämoglobinurie | PIGA | PIGA | 2-4 |
paroxysmale nächtliche Hämoglobinurie | PIGA, PIGT | PIGA,PIGT | 2-4 |
partielle Chromosom Y-Deletion, AZF-Faktor | USP9Y | USP9Y | 2-4 |
Parvovirus B19 | 1-2 | ||
Peeling-Skin-Syndrom | TGM5 | TGM5 | 5-7 |
PLP1 | PLP1 | 2-3 | |
PLP1 | PLP1 | 2-3 | |
Pelizaeus-Merzbacher-ähnliche Krankheit | AIMP1 | AIMP1 | 5-7 |
Pelizaeus-Merzbacher-ähnliche Krankheit | GJC2 | GJC2 | 4-5 |
Pelizaeus-Merzbacher-ähnliche Krankheit | HSPD1 | HSPD1 | 4-5 |
Pendred-Syndrom | FOXI1, KCNJ10, SLC26A4 | FOXI1, KCNJ10, SLC26A4 | 15-16 |
CLPP; HARS2, HSD27B4, LARS2 | CLPP; HARS2, HSD27B4, LARS2 | 4-8 | |
Autosomal-rezessiv | HARS2 | HARS2 | 2-4 |
Autosomal-rezessiv | HSD17B4 | HSD17B4 | 3-4 |
Typ 3 | CLPP | CLPP | 3-4 |
Typ 4 | LARS2 | LARS2 | 3-4 |
ATOH7 | ATOH7 | 2-4 | |
- | PAX6 | PAX6 | 2-4 |
- | PITX2 | PITX2 | 2-4 |
B3GLCT | B3GLCT | 2-4 | |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 3-4 |
- | STK11 | STK11 | 4-8 |
- | FGFR1 | FGFR1 | 1-2 |
- | FGFR1 | FGFR1 | 3-4 |
- | FGFR2 | FGFR2 | 1-2 |
- | FGFR2 | FGFR2 | 3-4 |
- | KIT | KIT | 3 |
Piebaldismus | SNAI2 | SNAI2 | 3-4 |
Piebaldismus | SNAI2 | SNAI2 | 3-4 |
Pierson-Syndrom | LAMB2 | LAMB2 | 2-4 |
RUNX1 | RUNX1 | ||
RUNX1, GATA2, TERC, TERT, CEBPA | RUNX1,GATA2,TERC,TERT,CEBPA | 2-4 Wochen | |
IQCE | IQCE | ||
AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 | AIRE, CTLA4, FOXP3, IL2RA, ITCH, JAK1, LRBA, STAT1, STAT3, STAT5B, TNFAIP3 | NULL | |
autoimmun, Typ 1 | AIRE | AIRE | 2 - 4 |
autoimmun, Typ 1 | 2 - 4 | ||
STRADA | STRADA | NULL | |
POLD1 | POLD1 | ||
- | SMAD4 | SMAD4 | 4-8 |
- | SMAD4 | SMAD4 | 4-8 |
- | ALG8 | ALG8 | 3-4 |
- | GANAB | GANAB | 3-4 |
- | PRKCSH | PRKCSH | 3-4 |
- | SEC63 | SEC63 | 3-4 |
Typ 2C | TSEN34 | TSEN34 | NULL |
Porenzephalie 1 | COL4A1 | COL4A1 | 6-8 |
Porenzephalie 2 | COL4A2 | COL4A2 | 4-8 |
Porphyria variegata | PPOX | PPOX | 8-20 |
akute intermittierende | HMBS | HMBS | 8-20 |
SNRPN | SNRPN | 2-4 | |
PDE11A | PDE11A | 2-4 | |
4-8 | |||
Typ 1 | ATP8B1 | ATP8B1 | 2-4 |
Typ 2 | ABCB11 | ABCB11 | 2-4 |
Typ 3 | ABCB4 | ABCB4 | 2-4 |
Typ 3 | ABCB4 | ABCB4 | 2-4 |
Typ 4 | TJP2 | TJP2 | 2-4 |
NGS | AIP, DICER, MEN1, SDHB | AIP, DICER, MEN1, SDHB | 4-6 |
Protein-C-Rezeptor-Mangel | PROCR | PROCR | 3-4 |
NGS | AKT1, PIK3CA, PTEN | AKT1, PIK3CA, PTEN | 4-6 |
AKT1 | AKT1 | 3-4 | |
Pseudoachondroplasie | COMP | COMP | 2-4 |
GNAS | GNAS | 2-4 | |
Pseudoxanthoma elasticum | ABCC6 | ABCC6 | NULL |
Pseudoxanthoma elasticum | ABCC6 | ABCC6 | 2-4 |
Pyruvat-Carboxylase-Mangel | PC | PC | 2-4 |
PHYH | PHYH | 4-6 | |
NLRP7/NALP7, KHDC3L, MEI1, C11orf80 | NLRP7/NALP7, KHDC3L, MEI1, C11orf80 | ||
NULL | |||
NGS | 4-6 | ||
restriktive Dermopathie | ZMPSTE24 | ZMPSTE24 | 6-8 |
SMARCB1 | SMARCB1 | 2-3 Wochen | |
Roberts-Syndrom | ESCO2 | ESCO2 | 2-4 |
autosomal-dominant | DVL1 | DVL1 | 4-6 |
autosomal-dominant | WNT5A | WNT5A | 2-4 |
autosomal-rezessiv | ROR2 | ROR2 | 2-4 |
autosomal-rezessiv | ROR2 | ROR2 | 2-3 |
Schilddrüsen-Dyshormonogenese | TPO | TPO | 2-4 |
DUOX2 | DUOX2 | 2-4 | |
NGS | DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2, SLC26A4, SLC5A5, TG, THRA, THRB, TPO, TRH, TSHB, TSHR, TTF1, TTF2, UBR1 | DUOX2, DUOXA2, GLIS3, GNAS, IGSF1, IYD, LHX3, NKX2-1, NKX2-5, PAX8, POU1F1, PROP1, SECISBP2, SLC16A2 | 4-8 |
TPO, PAX8, FOXE1, NKX2-1, TSHR | TPO, PAX8, FOXE1, NKX2-1, TSHR | 2-4 | |
NULL | |||
sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel | ACADVL | ACADVL | 2-4 |
ASXL2 | ASXL2 | NULL | |
SHOX-Defizienz | SHOX | SHOX | 2-4 |
SHOX-Defizienz | SHOX | SHOX | 2-4 |
NEU1 | NEU1 | NULL | |
Sialinsäure-Speicherkrankheit | SLC17A5 | SLC17A5 | 4-6 |
Methylierungsanalyse H19-DMR und KvDMR1 | H19, KCNQ1OT1 | H19,KCNQ1OT1 | 2-4 |
MLPA Analyse UPD(7)mat | GRB10, MEST | GRB10,MEST | 2-4 |
ALDH3A2/FALDH | ALDH3A2/FALDH | 2-4 | |
ALDH3A2/FALDH | ALDH3A2/FALDH | 3-5 | |
NGS | AMER1, ANKH, CA2, CLCN7, COL1A1, CSF1R, CTSK, DHCR24, DLX3, FAM20C, FERMT3, FGF23, GALNT3, GJA1, HPGD, IKBKG, KL, LEMD3, LRP4, LRP5, LRRK1, MAP2K1, MTAP, OSTM1, PLEKHM1, POLR3B, PTDSS1, PTH1R, SFRP4, SLC29A3, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, ..... | AMER1, ANKH, CA2, CLCN7, COL1A1, CSF1R, CTSK, DHCR24, DLX3, FAM20C, FERMT3, FGF23, GALNT3, GJA1, HPG | 4-6 |
NGS | ALPL, ANO5, ATP6V0A2, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DDX58, FKBP10, GORAB, IFIH1, IFITM5, LRP5, MBTPS2, NBAS, NOTCH2, P3H1, P4HB, PLOD2, PLS3, POLR3A, PPIB, PYCR1, SEC24D, SERPINF1, SERPINH1, SGMS2, SP7, SPARC, TENT5A, ........ | ALPL, ANO5, ATP6V0A2, B3GALT6, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, DDX58, FKBP10, GORAB, | 4-6 |
Typ Charlevoix-Saguenay | SACS | SACS | 14-16 |
Typ 11 | SPG11 | SPG11 | 4-5 |
Typ 17 | BSCL2 | BSCL2 | 4-5 |
Typ 3 | ATL1 | ATL1 | 2-4 |
Typ 3 | ATL1 | ATL1 | 2-3 |
Typ 31 | REEP1 | REEP1 | 3-4 |
Typ 4 | SPAST | SPAST | 2-4 |
Typ 4 | SPAST | SPAST | 2-3 |
Typ 5 | CYP7B1 | CYP7B1 | 3-4 |
Typ 6 | NIPA1 | NIPA1 | NULL |
Typ 7 | SPG7 | SPG7 | 8-12 |
Typ 8 | KIAA0196 | KIAA0196 | NULL |
DDHD2 | DDHD2 | NULL | |
WASHC5 | WASHC5 | NULL | |
PNPLA6 | PNPLA6 | NULL | |
Typ 1 | IGHMBP2 | IGHMBP2 | 3-4 |
Typ 1, 2, 3, 4 | SMN1 | SMN1 | 3-4 |
Typ 1, 2, 3, 4 | SMN1 | SMN1 | 10-14 |
Typ 3 | SMN2 | SMN2 | 2-3 |
Typ trada | TRAPPC2 | TRAPPC2 | 2-4 |
kongenitaler Typ | COL2A1 | COL2A1 | 4-6 |
kongenitaler Typ | COL2A1 | COL2A1 | 4-6 |
kongenitaler Typ | COL2A1 | COL2A1 | 2-3 |
MATN3 | MATN3 | NULL | |
Stargardt-ähnliche Makuladystrophie | IMPG1 | IMPG1 | 2-4 |
COL27A1 | COL27A1 | NULL | |
Sterilität, CBAVD | CFTR | CFTR | 3-4 |
Sterilität, CBAVD | CFTR | CFTR | 3-4 |
Steroid-5-alpha-Reduktase-2-Mangel | SRD5A2 | SRD5A2 | 2-4 |
COL11A1 | COL11A1 | 2-4 | |
NGS | verschiedene Gene für STICK | verschiedene Gene für STICK | 4-8 |
Typ 1 | COL2A1 | COL2A1 | 4-6 |
Typ 1 | COL2A1 | COL2A1 | 4-6 |
Typ 1 | COL2A1 | COL2A1 | 2-3 |
Typ 2 | COL11A1 | COL11A1 | 4-6 |
Typ 2 | COL11A1 | COL11A1 | 2-4 |
Stuve-Wiedemann-Syndrom | LIFR | LIFR | 6-8 |
Störungen der Geschlechtsentwicklung | NR5A1 | NR5A1 | 2-4 |
WNT9B | WNT9B | 2-4 | |
Surfactant-Protein-Defizienz | SFTPC | SFTPC | 3-4 |
Surfactant-Protein-Defizienz | ABCA3 | ABCA3 | 3-4 |
Surfactant-Protein-Defizienz | ABCA3, SFTPC | ABCA3, SFTPC | 2-4 |
Surfactant-Protein-Defizienz | SFTPB | SFTPB | 3-4 |
Surfactant-Protein-Defizienz | SFTPB | SFTPB | 2-3 |
NGS | ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC | ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC | 6-8 |
NULL | |||
proximaler | GDF5 | GDF5 | 3-4 |
proximaler | NOG | NOG | 1-3 |
autoimmun-lymphoproliferatives Typ 2 | CASP10 | CASP10 | 2-4 |
MED13 | MED13 | ||
NGS | diverse Gene | diverse Gene | 4-8 |
NGS | CISD2, DCAF17, DNAJC3, EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, IER3IP1, MT-TL1, PAX6, RFX6, SLC19A2, SLC29A3, STAT3, TRMT10A, WFS1 | CISD2, DCAF17, DNAJC3, EIF2AK3, FOXP3, GATA4, GATA6, GLIS3, IER3IP1, MT-TL1, PAX6, RFX6, SLC19A2, SL | 4-8 |
systemische juvenile rheumatoide Arthritis | IL6 | IL6 | 1-2 |
systemische juvenile rheumatoide Arthritis | IL6 | IL6 | 1-2 |
T-Zell-Rezeptor-gamma-Rearrangement | TCRG | TCRG | 2-3 |
RBM10 | RBM10 | 3-4 | |
AR | AR | 2-4 | |
HBA1, HBA2, HBB | HBA1, HBA2, HBB | 2-4 | |
Alpha | HBA1, HBA2 | HBA1, HBA2 | 2-4 |
Alpha | HBA1, HBA2 | HBA1, HBA2 | 2-4 |
Beta | HBB | HBB | 2-4 |
Beta | HBB | HBB | 2-4 |
HPFH | HBG1, HBG2 | HBG1, HBG2 | 3-4 |
SLC19A2 | SLC19A2 | 2-4 | |
Thrombotisch-thrombozytopenische Purpura | ADAMTS13 | ADAMTS13 | 2-4 |
MITF | MITF | 3-4 | |
Transaldolase-Mangel | TALDO1 | TALDO1 | 6-8 |
Treacher-Collins-Syndrom | POLR1C | POLR1C | 3-4 |
Treacher-Collins-Syndrom | POLR1D | POLR1D | 3-4 |
Treacher-Collins-Syndrom | TCOF1 | TCOF1 | 6-8 |
Treacher-Collins-Syndrom | TCOF1 | TCOF1 | 2-3 |
MLPA | TRPS1 | TRPS1 | 2-4 |
Trimethylaminurie | FMO3 | FMO3 | 2-4 |
TSC1, TSC2 | TSC1,TSC2 | 2-3 | |
Typ 1 | TSC1 | TSC1 | 3-4 |
Typ 2 | TSC2 | TSC2 | 4-5 |
2-3 | |||
Tumor-Prädispositionssyndrom | BAP1 | BAP1 | 2-4 |
Tumor-Prädispositionssyndrom | BAP1 | BAP1 | 2-4 |
Typ 1 | FAH | FAH | 4-6 |
KCNB1 | KCNB1 | NULL | |
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
2-4 | |||
CSTB | CSTB | 3-4 | |
Unverricht Lundborg Epilepsie | CSTB | CSTB | 4-5 |
NGS | divers | divers | 4-8 |
Typ 1B | MYO7A | MYO7A | 2-4 |
Typ 1C | USH1C | USH1C | 2-4 |
Typ 1D | CDH23 | CDH23 | 2-4 |
Typ 1F | PCDH15 | PCDH15 | 2-4 |
Typ 1F | PCDH15 | PCDH15 | 2-4 |
Typ 1G | USH1G | USH1G | 2-4 |
Typ 1J | CIB2 | CIB2 | 2-4 |
Typ 2 D | DFNB31 | DFNB31 | 2-4 |
Typ 2A | USH2A | USH2A | 2-4 |
Typ 2A | USH2A | USH2A | 2-4 |
Typ 2C | GPR98/ADGRV1 | GPR98/ADGRV1 | 2-4 |
Typ 3A | USH3A | USH3A | 2-3 |
Typ 3B | HARS | HARS | 2-4 |
Typ 48 | CIB2 | CIB2 | 3-4 |
Van-der-Woude-Syndrom | IRF6 | IRF6 | 4-6 |
Vitamin-E-abhängige Ataxie | TTPA | TTPA | 5-6 |
GHRHR | GHRHR | 2-4 | |
GH1 | GH1 | 2-4 | |
VCAN | VCAN | NULL | |
- | WT1 | WT1 | 3-4 |
B3GALNT2 | B3GALNT2 | NULL | |
ISPD | ISPD | NULL | |
4-8 | |||
POMT1 | POMT1 | NULL | |
POMT2 | POMT2 | 3-4 | |
TMEM5 | TMEM5 | NULL | |
WARS | WARS | NULL | |
Wiedemann-Steiner-Syndrom | KMT2A/MLL1 | KMT2A/MLL1 | 4-6 |
NULL | |||
Williams Beuren Syndrom | CLIP2, ELN, LIMK | CLIP2, ELN, LIMK | 3-4 |
Typ 2 | CISD2 | CISD2 | 2-4 |
WWP2 | WWP2 | ||
4-8 | |||
X-chromosomales Hyper-IgM-Syndrom | CD40LG, CD40, UNG, AICDA | CD40LG, CD40, UNG, AICDA | 5-6 Wochen |
4-6 | |||
Typ 1 | XDH | XDH | 2-4 |
primäre | PTH1R | PTH1R | 4-6 |
diverse | diverse | 4-8 | |
X-gekoppelt | ORF15, RPGR | ORF15, RPGR | 4-8 |
zerebraler cavernöse Fehlbildungen | KRIT1, CCM2, PDCD10 | KRIT1, CCM2, PDCD10 | 4-8 |
PKD1, PKD2, DNAJB11, GANAB, ALG9 | PKD1,PKD2,DNAJB11,GANAB,ALG9 | 12-18 | |
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
4-8 | |||
NULL | |||
NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8 | NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8 | 4-8 | |
NULL | |||
NULL | |||
NGS | 4-8 | ||
Renal tubuläre Dysgenesie | 12 | ||
8-12 | |||
SLC30A2 | SLC30A2 | 4-6 | |
ALG9 | ALG9 | 2-4 | |
Mitochondriopathie | |||
CHD4 | CHD4 | NULL | |
GOLGA2 | GOLGA2 | NULL | |
PRIMA1 | PRIMA1 | NULL | |
- | GLI3 | GLI3 | 3-5 |
- | GLI3 | GLI3 | 2-3 |
ALAD | ALAD | 4-8 | |
8-12 | |||
4-6 | |||
4-6 | |||
4-6 | |||
4-6 | |||
4-6 | |||
BCKDK | BCKDK | 2-4 | |
SLC19A3 | SLC19A3 | 2-4 | |
NGS | CACNA1C, CACNA2D1, CACNB2, HCN4, KCNE3, SCN3B, SCN5A, TRPM4 und weitere | CACNA1C, CACNA2D1, CACNB2, HCN4, KCNE3, SCN3B, SCN5A, TRPM4 und weitere | 4-8 |
Typ 1 | SCN5A | SCN5A | 4-6 |
Typ 4 | CACNB2 | CACNB2 | NULL |
Typ 8 | HCN4 | HCN4 | 4-8 |
NGS | MYC, ARID1A, CCND3, CREBBP, GNA13, ID3, TP53 | MYC, ARID1A, CCND3, CREBBP, GNA13, ID3, TP53 | 2 |
Börjeson-Forssman-Lehmann-Syndrom | PHF6 | PHF6 | 2-4 |
HTRA1 | HTRA1 | NULL | |
idiopathische | UNC119 | UNC119 | 2-4 |
NULL | |||
NGS | AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2 | AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, PTPN22, STAT1, TLR3, TRAF3IP2 | 4-6 |
Typ 1 | FBLN4/EFEMP2 | FBLN4/EFEMP2 | 8-12 |
Typ 1 | FBLN5 | FBLN5 | 4-6 |
DiGeorge-Syndrom | TBX1 | TBX1 | 4-5 |
Doynsche Honigwabendystrophi | EFEMP1 | EFEMP1 | 3-4 |
ADAR | ADAR | 2-4 | |
Dyskeratosis congenita | DKC1 | DKC1 | 4-6 |
NGS | CTC1, DKC1, RTEL1, TERC, TERT, TINF2, ACD, NHP2 | CTC1, DKC1, RTEL1, TERC, TERT, TINF2, ACD, NHP2 | 4-8 |
NGS | B3GALT6, B3GAT3, BPNT2, CANT1, CHST3, CSGALNACT1, EXOC6B, FAM20B, FKBP14, FLNB, GZF1, KIF22, PLOD1, SLC10A7, SLC26A2, XYLT1 | B3GALT6, B3GAT3, BPNT2, CANT1, CHST3, CSGALNACT1, EXOC6B, FAM20B, FKBP14, FLNB, GZF1, KIF22, PLOD1, | 4-6 |
VLDLR | VLDLR | NULL | |
epidermolytische palmoplantare Keratose | KRT9 | KRT9 | 4-8 |
PCDH19 | PCDH19 | NULL | |
6-10 | |||
- | FANCD1/BRCA2 | FANCD1/BRCA2 | 4-8 |
FH | FH | 2-4 | |
Galaktokinase-Mangel | GALK1 | GALK1 | 2-4 |
6-10 | |||
MCM4 | MCM4 | 2-4 | |
FGD Typ 1 | MC2R | MC2R | 2-4 |
FGD Typ 2 | MRAP | MRAP | 2-4 |
Glutaryl-CoA-Dehydrogenase-Mangel | GCDH | GCDH | 8-12 |
GYG1 | GYG1 | 2-4 | |
RFT1 | RFT1 | 3-6 | |
kongenitaler | PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1 | PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, | 4-8 |
kongenitaler | B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199 | B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, S | 4-8 |
kongenitaler | MGAT2 | MGAT2 | 4-8 |
kongenitaler | ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165 | ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, | 4-8 |
kongenitaler Typ 1T | PGM1 | PGM1 | 2-4 |
kongenitaler, Typ 1 A | PMM2 | PMM2 | 4-8 |
kongenitaler, Typ 1B | MPI | MPI | 2-4 |
kongenitaler, Typ 2 | ALG9 | ALG9 | 2-4 |
GRACILE-Syndrom | BCS1L | BCS1L | 2-4 |
Gricelli-Syndrom | verschiedene Gene für GS | verschiedene Gene für GS | 6-10 |
Typ 1 | MYO5A | MYO5A | 6-10 |
Typ 2 | RAB27A | RAB27A | 6-10 |
Typ 3 | MLPH | MLPH | 4-8 |
ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC | ADAMTS3, CCBE1, CELSR1, EPHB4, FAT4, FLT4, FOXC2, GJC2, KIF11, PIEZO1, PTPN14, SOX18, VEGFC | 4-6 Wochen | |
Holocarboxylase-Synthetase-Mangel | HLCS | HLCS | 4-5 |
- | CETP | CETP | 2-4 |
NGS | 4-6 | ||
PGAP3 | PGAP3 | NULL | |
NALCN | NALCN | NULL | |
juvenile Makuladegeneration | CDH3 | CDH3 | 4-5 |
Immundefizienz 47 | ATP6AP1 | ATP6AP1 | 4-8 |
infantile Hyperkalziurie | CYP24A1 | CYP24A1 | 2-4 |
ANKS4B | ANKS4B | 2-4 | |
KMT2C | KMT2C | NULL | |
EHMT1 | EHMT1 | NULL | |
RNU4ATAC | RNU4ATAC | 6-8 | |
letale Form | FAM20C | FAM20C | 4-8 |
ROGDI | ROGDI | ||
MSH6, EPCAM | MSH6, EPCAM | 4-6 | |
NGS | MLH1, MSH2, MSH6, PMS2, EPCAM | MLH1, MSH2, MSH6, PMS2, EPCAM | 4-8 |
Typ 1 | MSH2 | MSH2 | 4-6 |
Typ 1 / 2 | MLH1, MSH2 | MLH1, MSH2 | 4-6 |
Typ 2 | MLH1 | MLH1 | 4-6 |
Typ 4 | PMS2 | PMS2 | 4-6 |
Typ 5 | MSH6 | MSH6 | 4-6 |
Typ 7 | MLH3 | MLH3 | 4-6 |
Typ 8 | EPCAM | EPCAM | 4-8 |
Typ 8 | EPCAM | EPCAM | 3-4 |
Laktoseintoleranz | LCT | LCT | 1-3 |
- | SPRED1 | SPRED1 | 3-4 |
- | SPRED1 | SPRED1 | 3-4 |
NGS | 2 | ||
hämophagozytische | PRF1, STX11, UNC13D | PRF1,STX11, UNC13D | 2-4 |
hämophagozytische, Typ 2 | PRF1 | PRF1 | 4-8 |
hämophagozytische, Typ 3 | UNC13D | UNC13D | 4-8 |
hämophagozytische, Typ 4 | STX11 | STX11 | 4-8 |
hämophagozytische, Typ 5 | STXBP2 | STXBP2 | 4-8 |
Typ cblA | MMAA | MMAA | 2-4 |
Typ 1 und 2 | CYB5R3 | CYB5R3 | 2-4 |
Typ 1 und 2 | CYB5R3 | CYB5R3 | 4-8 |
TSC2, PKD1 | TSC2, PKD1 | 2-3 | |
NGS | AARS2, ABCB7, ACAD9, ACADM, ACADS, ACADVL, ACO2, ADCK1, ADCK2, ADCK5, AFG3L2, AGK, AIFM1, AK2, APTX, ATP5F1A, ATP5F1E, ATPAF1, ATPAF2, AUH, BCS1L, BOLA3, C12orf65, C19orf12, CARS2, CHCHD10, CHKB, CLPB, CLPP, COA3, COA5, COA8, COASY, COQ10A, COQ10B, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9 | AARS2,ABCB7,ACAD9,ACADM,ACADS,ACADVL,ACO2,ADCK1,ADCK2,ADCK5,AFG3L2,AGK,AIFM1,AK2,APTX,ATP5F1A,ATP5F1 | 4-6 |
SLC5A8 | SLC5A8 | NULL | |
SON | SON | NULL | |
STAG2 | STAG2 | NULL | |
NQO1 | NQO1 | 2-3 | |
NGS | 4-8 | ||
kongenitale schwere 4 | G6PC3 | G6PC3 | 4-8 |
NGS | ELANE, G6PC3, HAX1, JAGN1, WAS | ELANE, G6PC3, HAX1, JAGN1, WAS | 4-8 |
- | PLOD2 | PLOD2 | 3-4 |
- | SEC24D | SEC24D | 4-8 |
Typ 10 | SERPINH1 | SERPINH1 | 2-4 |
Typ 11 | FKBP10 | FKBP10 | 3-4 |
Typ 13 | BMP1 | BMP1 | 3-4 |
Typ 14 | TMEM38B | TMEM38B | 3-4 |
Typ 15 | WNT1 | WNT1 | 3-4 |
Typ 6 | CREB3L1 | CREB3L1 | 4-8 |
Typ 6 | SERPINF1 | SERPINF1 | 3-4 |
Typ 7 | CRTAP | CRTAP | 3-5 |
Typ 8 | LEPRE1/P3H1 | LEPRE1/P3H1 | 3-4 |
Typ 9 | PPIB | PPIB | 3-4 |
MIPEP | MIPEP | NULL | |
mitochondrial | 3-4 | ||
FLNA | FLNA | 4-6 | |
TWNK | TWNK | 2-4 | |
PNMT | PNMT | NULL | |
ADGRG1 | ADGRG1 | NULL | |
Porphyria cutanea tarda | FECH, UROS, UROD and CPOX | FECH, UROS, UROD and CPOX | 2-4 |
Protein-S-Mangel | PROS1 | PROS1 | 4-6 |
NGS | 4-6 | ||
Renal tubuläre Azidose, distal/proximal | CA2 | CA2 | 2-4 |
MECP2 | MECP2 | 3-4 | |
atypisches | CDKL5 | CDKL5 | 3-4 |
atypisches | CDKL5 | CDKL5 | 2-3 |
atypisches | FOXG1 | FOXG1 | 3-4 |
atypisches | FOXG1 | FOXG1 | 4-5 |
atypisches | NTNG1 | NTNG1 | 3-4 |
atypisches | NTNG1 | NTNG1 | 3-4 |
klassisches | MECP2 | MECP2 | 3-4 |
NGS | DICER1, HRAS, NF1, PTPN11, TP53 | DICER1, HRAS, NF1, PTPN11, TP53 | 4-6 |
NGS | APC, CDKN1B, DICER1, FOXE1, HABP2, MEN1, NKX2-1, PRKAR1A, RET, PTEN, TP53 | APC, CDKN1B, DICER1, FOXE1, HABP2, MEN1, NKX2-1, PRKAR1A, RET, PTEN, TP53 | 4-8 |
PAX3 | PAX3 | 3-4 | |
FLNB | FLNB | 2-3 | |
FLNB | FLNB | 3-4 | |
FLNB | FLNB | 5-6 | |
NGS | CYP21A2, CYP17A1, CYP11B1, HSD3B2, POR, STAR | CYP21A2, CYP17A1, CYP11B1, HSD3B2, POR, STAR | 4-8 |
NGS | CLPP, CYP11B1, CYP21A2, FSHR, HARS2, HNF1B, HSD17B4, LARS2, LHCGR, LHX1, NR5A1, POR, PSMC3IP, RSPO1, SOX3, SOX9, SRY, WNT4 | CLPP, CYP11B1, CYP21A2, FSHR, HARS2, HNF1B, HSD17B4, LARS2, LHCGR, LHX1, NR5A1, POR, PSMC3IP, RSPO1, | 4-8 |
MLPA-Analyse UPD(14)mat | 2-4 | ||
- | ANKRD26 | ANKRD26 | 4-6 |
- | GATA1 | GATA1 | 4-6 |
NGS | 4-6 | ||
- | THPO | THPO | 4-6 |
NGS | JAK2, MPL, THPO | JAK2, MPL, THPO | 4-6 |
PCGF2 | PCGF2 | ||
Typ 1 | ASS1 | ASS1 | 4-6 |
Typ 2 | SLC25A13 | SLC25A13 | 4-6 |
¹ Alle Gene für diese Erkrankung werden zur Testung angeboten. Da in einzelnen Fällen spezifische Genotyp-, Phänotyp-Korrelationen bestehen, bitten wir ggf. um Rücksprache, um eine möglichst gezielte Analyse vornehmen zu können.
² Kopplungsanalyse durchführbar, sinnvoll vor allem bei elterlicher Blutsverwandtschaft und/oder Vorliegen von Proben mehrerer Familienmitglieder.
³ Stufenanalyse
* Fremdlaborleistungen. Alle weiteren dargestellten Untersuchungen erbringen wir am Standort Ingelheim.