zurück

Treffer für Suchbegriff "diabetes"

Molekulargenetik

Erkrankung Gen OMIM Dauer in Wochen
(SH3TC1)      
Diabetes insipidus AVP, AVPR2, AQP2 AVP, AVPR2, AQP2 4-6
17-beta hydrosysteroid dehydrogenase 3 deficiency*      
- ABCC8 ABCC8 2-4
- EIF2AK3 EIF2AK3 2-4
- GCK GCK 2-4
- INS INS 2-4
- INS INS 2-4
- KCNJ11 KCNJ11 2-4
3-Methylglutacon-Azidurie ZFP57 ZFP57 2-4
3M-Syndrom      
6q24 relevant (MLPA) ZFP57, PLAGL1, KCNJ11, INS, ZC2HC1B, IGF2R, ZC2HC1B, NMBR ZFP57,PLAGL1,KCNJ11,INS,ZC2HC1B,IGF2R,ZC2HC1B,NMBR 2-4
Adenosin-Deaminase-Mangel      
- DUT DUT 2-4
Diabetes mellitus      
Adenosin-Deaminase-Mangel ADA ADA 2-4
Gitelman-Syndrom SLC12A3 SLC12A3 2-4
SLC12A3 SLC12A3 2-4
Ehlers-Danlos syndrome1,3      
- HNF1B/TCF2 HNF1B/TCF2 2-4
HNF1B/TCF2 HNF1B/TCF2 2-3
Diabetes insipidus      
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-Hydroxyisobutyrat-Dehydrogenase-Mangel HIBADH HIBADH 2-4
HIBCH HIBCH 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
- LEP LEP 2-4
- LEPR LEPR 2-4
- MC3R MC3R 2-4
- MC4R MC4R 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
- PCSK1 PCSK1 2-4
- POMC POMC 2-4
KSR2 KSR2 2-4
ALG9 ALG9 2-4
ADPKD PKD1, PKD2 PKD1, PKD2 2-4
PKD1, PKD2, DNAJB11, GANAB, ALG9 PKD1,PKD2,DNAJB11,GANAB,ALG9 12-18
Agammaglobulinämie IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 IGHM, IGLL1, CD79A, CD79B, BLNK, PIK3R1 4-6
X-chromosomal 1 BTK BTK 2-4
Typ 1A BCKDHA BCKDHA 2-4
Typ 1B BCKDHB BCKDHB 2-4
Typ 2 DBT DBT 2-4
NGS BCKDHA, BCKDHB, DBT, DLD BCKDHA, BCKDHB, DBT, DLD 4-6
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
Alpha HBA1, HBA2 HBA1, HBA2 2-4
Alpha HBA1, HBA2 HBA1, HBA2 2-4
amyotrophe FUS FUS 8
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
Sequenzierung des UBE3A-Gens UBE3A UBE3A 2-4
4-8
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
Typ 3 APOE APOE 2-3
Apparenter Mineralocorticoid-Überschuss HSD11B2 HSD11B2 2-4
kongenitale kontrakturale FBN2 FBN2 5-6
DZIP1L DZIP1L NULL
PKHD1, DZIP1L, PKD1 PKHD1, DZIP1L, PKD1 15-16
PKHD1 PKHD1 2-4
PKHD1L1 PKHD1L1 4-6
Typ 1 VPS33B, VIPAS39 VPS33B,VIPAS39 4-6
Typ 2 VIPAS39 VIPAS39 2-4
Typ 1 VPS33B VPS33B 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
autoimmun-lymphoproliferatives Typ 2 CASP10 CASP10 2-4
KARS KARS NULL
PTPRQ PTPRQ 3-6
Typ 1 PITX2 PITX2 2-4
4-8
NGS 4-6
Sequenzanalyse CDKN1C CDKN1C CDKN1C 4-6
Sequenzanalyse CDKN1C CDKN1C CDKN1C 2-4
Methylierungsanalyse H19-DMR und KvDMR1 H19, KCNQ1OT1 H19,KCNQ1OT1 2-4
Sequenzanalyse NLRP2 NLRP2 NLRP2 2-4
4-8
- GP1BA, GP1BB, G9 GP1BA, GP1BB, G9 4-6
Typ C GP9 GP9 2-4
Beta HBB HBB 2-4
Beta HBB HBB 2-4
bikuspide Aortenklappe GATA5, NKX2-5, NOTCH1, SMAD6 GATA5, NKX2-5, NOTCH1, SMAD6 4-6
BTD BTD NULL
Biotinidase-Mangel BTD BTD 2-4
Bohring-Opitz-Syndrom ASXL1 ASXL1 2-4
FLNB FLNB 2-3
FLNB FLNB 3-4
FLNB FLNB 5-6
4-8
IHH IHH 2-4
Brown-Vialetto-van Laere-Syndrom SLC52A3 SLC52A3 2-4
Brown-Vialetto-van Laere-Syndrom SLC52A2 SLC52A2 2-4
- ATM ATM 4-5
- ATM ATM 4-6
- BARD1 BARD1 4-8
BARD1 BARD1 2-3
- 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
BRIP1 BRIP1 2-3
- CHEK2 CHEK2 4-6
- CHEK2 CHEK2 4-6
- CHEK2 CHEK2 4-6
- NBN NBN 4-5
- PALB2 PALB2 2-4
MLPA PALB2, RAD50, RAD51D PALB2, RAD50, RAD51D 2-4
RAD50 RAD50
- RAD51C RAD51C 4-5
- STK11 STK11 3-4
- STK11 STK11 3-4
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
4-8
CAMRQ-Syndrom ATP8A2 ATP8A2 4-6
Canavan-Krankheit ASPA ASPA 4-6
Typ 1 PRKAR1A PRKAR1A 4-6
DSP DSP 2-4
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
neuronale 4-8
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
x-chromosomal, brachytelephalangealer Typ ARSE ARSE 4-8
Typ 2 EBP EBP 4-8
metaphysäre, Typ Schmid COL10A1 COL10A1 2-3
Typ Schmid COL10A1 COL10A1 3-4
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
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 B ERCC6 ERCC6 3-4
Typ A ERCC8 ERCC8 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
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
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
NGS 4-6
- OCRL/OCRL1 OCRL/OCRL1 2-4
DSPP DSPP NULL
DES DES 2-4
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
- DICER1 DICER1 4-8
- DICER1 DICER1 4-8
PHIP PHIP NULL
Dihydropyrimidin-Dehydrogenase-Mangel DPYD DPYD 1
FLNC FLNC NULL
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
DNAJC6 DNAJC6 NULL
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
diastrophischer SLC26A2 SLC26A2 2-4
4-8
Typ 6 THAP1 THAP1 4-5
autosomal-dominant GCH1 GCH1 2-3
autosomal-dominant GCH1 GCH1 3-4
Eagle-Barret-Syndrom CHRM3 CHRM3 5-6
EGFR EGFR NULL
COL5A1 COL5A1 NULL
EL EL
EMD EMD 2-4
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
breast cancer 1
kongenitale, durch Enteropeptidase-Mangel TMPRSS15/PRSS7 TMPRSS15/PRSS7 2-4
TRRAP TRRAP
ST7 ST7 NULL
SLC25A22 SLC25A22 2-4
SUOX SUOX 3-5
Enzephalopathie, epileptische frühinfantile SCN2A SCN2A 6-8
FGFR1 FGFR1 NULL
- COL17A1 COL17A1 6-8
- COL7A1, KRT5 COL7A1, KRT5 2-3
NGS COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5 COL7A1, ITGB4, LAMA3, LAMB3, LAMC2, KRT14, KRT5 4-8
dystrophe COL7A1 COL7A1 6-8
junktionale ITGB4 ITGB4 2-4
junktionale LAMA3 LAMA3 4-5
Typ Herlitz LAMC2 LAMC2 3-4
junktionale, Typ nicht-Herlitz LAMB3 LAMB3 3-4
HCN1 HCN1
NTRK2 NTRK2 4-6
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
- IKBKAP IKBKAP 3-4
ADCY5 ADCY5 NULL
LRP5 LRP5 2-3
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
GRIN2B GRIN2B NULL
SZT2 SZT2 NULL
Fruktose 1,6 Bisphosphatase-Mangel FBP1 FBP1 2-4
Fruktose 1,6 Bisphosphatase-Mangel ALDOB, FBP1 ALDOB, FBP1 2-4
ALDOB ALDOB
Fruktoseintoleranz, hereditär ALDOB ALDOB 2-4
FKTN FKTN 2-4
1
juveniler Typ CTSA CTSA 2-4
SOX3 SOX3 2-4
Typ 1 ENPP1 ENPP1 2-4
generalisierten pustulösen Psoriasis IL36RN IL36RN 3-4
- AMXY AMXY 3-4
- SRY SRY 2-4
SRY SRY 2-4
Typ 2A CAPN3 CAPN3 2-4
Typ 2B DYSF DYSF 2-4
Typ 2I FKRP FKRP 2-4
SGCA, SGCB, SGCD, SGCG und FKRP SGCA, SGCB, SGCD, SGCG und FKRP 4-6
Typ 1A MYOT MYOT 2-4
4-6
Typ 2D SGCA SGCA 2-4
Typ 2E SGCB SGCB 2-4
Typ 2C SGCG SGCG 2-4
APOL1 APOL1 3-4
4-6
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
nicht-ketotische Hyperglycinämie GCSH GCSH 3-4
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 0 GYS2 GYS2 2-4
Typ 11 SLC2A2 SLC2A2 2-4
Typ 1A G6PC1/G6PC G6PC1/G6PC 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
Typ 1-3 GLB1 GLB1 14-16
Gonadendysgenesie NR0B1 NR0B1 2-4
Gonadendysgenesie NR0B1 NR0B1 2-4
NR5A1 NR5A1 2-4
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
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 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
Typ 1 HFE HFE 4-8
Hämophilie B F9 F9 4-6
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
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
PMP22 PMP22 3-4
PMP22 PMP22 3-4
HPFH HBG1, HBG2 HBG1, HBG2 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
NGS DOCK8, STAT3, TYK2 DOCK8, STAT3, TYK2 4-8
Hyper-IgE-Syndrom STAT3 STAT3 4-8
Hyper-IgE-Syndrom TYK2 TYK2 4-8
X-chromosomales Hyper-IgM-Syndrom CD40LG, CD40, UNG, AICDA CD40LG, CD40, UNG, AICDA 5-6 Wochen
Hypereosinophilie-Syndrom FIP1L1, PDGFRA FIP1L1, PDGFRA 3-4
SCN4A SCN4A 3-5
Typ 3 AP2S1 AP2S1 2-4
Typ1 CASR CASR 2-4
CASR CASR 2-4
Typ 2 GNA11 GNA11 2-4
Hyperlipoproteinämie LPL LPL 2-4
SLC26A1 SLC26A1 2-4
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
4-6
TRPV6 TRPV6 2-4
PIGV PIGV NULL
Typ 2 ALDH4A1 ALDH4A1 3-4
Hypoalphalipoproteinämie LCAT LCAT 2-4
4-6
Hypochondrogenesie COL2A1 COL2A1 4-6
Hypochondrogenesie COL2A1 COL2A1 4-6
Hypochondrogenesie COL2A1 COL2A1 2-3
AKT2 AKT2 2-4
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
Typ 5 HESX1 HESX1 2-4
Typ 3 LHX3 LHX3 2-4
Typ 4 LHX4 LHX4 2-4
Typ 1 LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR LHX3, LHX4, GH1, HESX1, POU1F1, PROP1, GHRHR 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 POU1F1 POU1F1 2-4
Typ 2 SLC38A8 SLC38A8 3-4
hypoplastisches Linksherz-Syndrom NKX2-5 NKX2-5 2-4
DUOX2 DUOX2 2-4
Typ 1 SLC22A12 SLC22A12 2-4
Typ 2 SLC2A9 SLC2A9 2-4
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
IgVH IgVH 2-3
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
Immunhistochemie (MLH1, MSH2, MSH6, PMS2) 3-6
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
4-8
4-8
Typ 5 CHD7 CHD7 2-4
Typ 5 CHD7 CHD7 2-4
Typ 6 FGF8 FGF8 2-4
Typ 2 FGFR1 FGFR1 2-4
- FGFR1, PROKR2, PROK2, KISS1R, NELF, GNRH1, GNRHR FGFR1, PROKR2, PROK2, KISS1R, NELF, GNRH1, GNRHR 3-4
Typ 1 KAL1/ANOS1 KAL1/ANOS1 2-4
Typ 1 KAL1/ANOS1 KAL1/ANOS1 2-4
- KISS1R KISS1R 2-4
NGS 4-8
Typ 3 PROKR2 PROKR2 2-4
- TACR3 TACR3 2-4
dilatative ACTN2 ACTN2 NULL
familiäre isolierte arrhythmogene ventrikuläre DSG2 DSG2 2-4
LDB3 LDB3 NULL
dilatative oder hypertrophe MYBPC3 MYBPC3 2-4
MYH6 MYH6 2-4
MYOM1 MYOM1 2-4
dilatativ / hypertrophe NEXN NEXN 2-4
PLN PLN NULL
TNNI3 TNNI3 2-4
dilatative TNNT2 TNNT2 2-4
hypertrophe TPM1 TPM1 NULL
SLC25A3 SLC25A3 3-4
familiäre isolierte RYR2 RYR2 2-4
familiäre isolierte arrhythmogene ventrikuläre PKP2 PKP2 2-4
familiäre isolierte arrhythmogene ventrikuläre PKP2 PKP2 2-4
hypertrophe RBM20 RBM20 2-4
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
dilatative MYH7 MYH7 2-4
TTN TTN NULL
Typ 31 CHMP4B CHMP4B 2-4
Typ 9 CRYAA CRYAA 2-4
Typ 17 CRYBB1 CRYBB1 2-4
Typ 3 CRYBB2 CRYBB2 2-4
Typ 4 CRYGD CRYGD 2-4
Typ 2 CRYGC CRYGC 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
NGS ACAT1, GYS2, HIBADH, HMGCL, HSD17B10, OXCT1, SLC16A1 ACAT1,GYS2,HIBADH,HMGCL,HSD17B10,OXCT1,SLC16A1 2-4
Ketothiolase-Mangel ACAT1 ACAT1 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
MGP MGP 4-6
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
NGS MLH1, MSH2, MSH6, PMS2, EPCAM MLH1, MSH2, MSH6, PMS2, EPCAM 4-8
POLE1 POLE1 4-6
hereditäres nicht polypöses PMS2 PMS2 4-6
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
4-6
1-2
LARGE assoziierte Erkrankungen LARGE LARGE 5-6
amytrophe ALS2, ANG, ATXN2, DAO, FIG4, FUS, KIF5A, OPTN, PFN1, PON1, ... ALS2, ANG, ATXN2,DAO, FIG4, FUS, KIF5A, OPTN, PFN1, PON1, ... 4-8
amyotrophe 14 VCP VCP 2-6
amyotrophe CHCHD10 CHCHD10 2-4
amyotrophe KIF5A KIF5A 3-4
amyotrophe SOD1 SOD1 3-4
Typ 2 ALS2 ALS2 1-9 / 100 000
Primäre PLS PLS NULL
Typ 4 AIPL1 AIPL1 4-6
Typ 10 CEP290 CEP290 3-5
Typ 8 CRB1 CRB1 4-5
Typ 7 CRX CRX 3-4
Typ 8 AIPL1, CRB1, CRX, LCA5, RPE65 AIPL1, CRB1, CRX, LCA5, RPE65 2-4
- DTHD1 DTHD1 3-4
Typ 1 GUCY2D GUCY2D 4-5
Typ 7 GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26) GUCY2D; RDH12; RPGRIP1; CEP290 (nur Intron 26) 3-4
Typ 11 IMPDH1 IMPDH1 3-4
Typ 16 KCNJ13 KCNJ13 3-4
Typ 5 LCA5 LCA5 3-4
Typ 14 LRAT LRAT 3-4
Typ 9 NMNAT1 NMNAT1 3-4
Typ 12 RD3 RD3 3-4
Typ 13 RDH12 RDH12 3-4
Typ 2 RPE65 RPE65 3-4
Typ 6 RPGRIP1 RPGRIP1 3-4
Typ 6 RPGRIP1 RPGRIP1 3-4
Typ 3 SPATA7 SPATA7 3-4
Typ 15 TULP1 TULP1 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
GABRB3 GABRB3 2-4
CEBPA, cKIT CEBPA, cKIT NULL
GATA2 GATA2 NULL
quantitativ PML-RARA PML-RARA 1-2
qualitativ PML-RARA PML-RARA 1
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
mit Hirnstamm- und Rückenmark DARS2 DARS2 8-12
megalenzephalen, mit subkortikalen Zysten HEPACAM HEPACAM 8-20
megalenzephalen, mit subkortikalen Zysten MLC1 MLC1 8-20
zystische, ohne Megalenzephalie RNASET2 RNASET2 8-20
metachromatische Leukodystrophie ARSA ARSA 4-6
mit axonalen Sphäroiden und pigmentierter Glia CSF1R CSF1R 8-20
Leukenzephalopathie 4-8
SGCA, SGCB, SGCD, SGCG und FKRP SGCA, SGCB, SGCD, SGCG und FKRP
LH-Resistenz LHCGR LHCGR 2-4
LIG4 LIG4 4-6
TUBA1A TUBA1A NULL
Typ 1 LIS1/PAFAH1B1 LIS1/PAFAH1B1 4-5
Typ 2 RELN RELN 8-12
X-chromosomal DCX DCX 8-9
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
- 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
4-8
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
4-8
Medium-chain-Acyl-CoA-Dehydrogenase-Mangel ACADM ACADM 2-4
Medium-chain-Acyl-CoA-Dehydrogenase-Mangel ACADM ACADM 2-4
AKT3 AKT3 NULL
Meier-Gorlin-Syndrom 1 ORC1 ORC1 7-8
4 CDT1 CDT1 NULL
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
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
DYRK1B DYRK1B 2-4
Methionin-Adenosyltransferase-Mangel MAT1A MAT1A 6-8
Methylmalonat-Semialdehyd-Dehydrogenase-Mangel ALDH6A1 ALDH6A1 6-7
cbl D MMADHC MMADHC 2-4
cbl C MMACHC MMACHC 2-4
cbl C MMACHC MMACHC 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
hereditäres nicht polypöses NULL
MCPH5 ASPM ASPM 3-5
Seckel syndrome ATR ATR 3-5
MCPH4 CASC5 CASC5 3-5
MCPH3 CDK5RAP2 CDK5RAP2 3-5
MCPH6 CENPJ CENPJ 3-5
MCPH8 CEP135 CEP135 5-7
MCPH4, MCPH9 CEP152 CEP152 3-5
- CEP63 CEP63 3-5
- IER3IP1 IER3IP1 3-5
- KIF11 KIF11 3-5
MCPH1 MCPH1 MCPH1 3-5
MCPH2 WDR62 WDR62 3-5
- MYO16 MYO16 3-5
4-8
- PCNT PCNT 3-5
- RBBP8 RBBP8 4-6
- RTTN RTTN 3-5
- SLC25A19 SLC25A19 3-5
- TRAPPC9 TRAPPC9 3-5
- TUBB2B TUBB2B 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 B MOCS2 MOCS2 9-10
Typ C GPHN GPHN 4-8
Typ A MOCS1 MOCS1 9-10
KRT86 KRT86 4-8
Morbus Darier ATP2A2 ATP2A2 4-6
Morbus Krabbe GALC GALC 6-10
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
- AMH AMH 2-3
- AMHR2 AMHR2 2-3
- AMH, AMHR2 AMH,AMHR2 3-4
multi-drug-Resistenz ABCB1/MDR1 ABCB1/MDR1 2-3
SEPN1 SEPN1 3-4
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
familiäre atypische Mykobakteriose IFNGR1 IFNGR1 NULL
NGS PDGFRB, NOTCH3 PDGFRB, NOTCH3 4-8
rekurrente, genetisch bedingte LPIN1 LPIN1 2-4
juvenile CACNA1A CACNA1A 34-35
juvenile CACNA2D2 CACNA2D2 8-12
CACNB4 CACNB4 34-35
CACNG4 CACNG4 NULL
CLCN2 CLCN2 NULL
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-rezessiv, Typ 2B CABP4 CABP4 4-5
X-chromosomal, Typ 2A CACNA1F CACNA1F 4-5
Autosomal dominant, Typ 3 GNAT1 GNAT1 4-6
autosomal-rezessiv, Typ 1E GPR179 GPR179 4-5
autosomal-rezessiv, Typ 1B GRM6 GRM6 4-5
autosomal-rezessiv, Typ 1F LRIT3 LRIT3 3-4
X-chromosomal, Typ 1A NYX NYX 3-4
autosomal dominant 2 PDE6B PDE6B 4-6
Autosomal dominant, Typ 1 RHO RHO 4-6
Typ 1D SLC24A1 SLC24A1 3-4
autosomal-rezessiv, Typ 1C TRPM1 TRPM1 4-5
Nagel-Patella-Syndrom LMX1B LMX1B 3-4
Nagel-Patella-Syndrom LMX1B LMX1B 2-3
NHS NHS 2-4
NULL
Natrium-Diarrhoe, kongenitale SPINT2 SPINT2 NULL
- KLHL41 KLHL41 4-6
Typ Amish TNNT1 TNNT1 4-5
4-8
NPHP1 NPHP1 NPHP1 2-5
NPHP1 NPHP1 NPHP1 2-3
Netherton-Syndrom SPINK5 SPINK5 4-5
GNAO1 GNAO1
Typ 2 4-8
Typ Fiskerstrand ABHD12 ABHD12 3-4
X-chromosomal WAS WAS 4-8
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
NGS CSF3R, SETBP1, ASXL1 CSF3R, SETBP1, ASXL1 2
NFE2L3 NFE2L3 NULL
NULL
1-2
NGS 4-8
NGS 4-6 Wochen
pappilär MET MET 2-4
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
Typ 1 FRMD7 FRMD7 2-4
Typ 1 FRMD7 FRMD7 2-4
Typ 6 GPR143 GPR143 2-4
verschiedene Gene für NYS verschiedene Gene für NYS 4-8
LRIG2 LRIG2 NULL
Okihiro-Syndrom SALL4 SALL4 4-6
Ornithintranscarbamylase-Mangel OTC OTC 5-8
Ornithintranscarbamylase-Mangel OTC OTC 3-4
4-8
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 7 TNFRSF11A TNFRSF11A 5-6
Typ 2 TNFSF11 TNFSF11 5-6
Typ 5 OSTM1 OSTM1 5-6
X-chromosomal PLS3 PLS3 4-8
LRP5 LRP5 3-4
FLNA FLNA NULL
NGS KRT16, KRT17, KRT6A, KRT6B, KRT6C KRT16, KRT17, KRT6A, KRT6B, KRT6C 4-8
2 KRT17 KRT17 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
Parkinson-Krankheit LRRK2 LRRK2 4-8
PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1 PARK7 ATP13A2 PINK1 UCHL1 SNCA PARK2 CAV1/2 LRRK2 GCH1 2-3
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
23 VPS13C VPS13C 4-8
17 VPS35 VPS35 4-8
frühkindlich hypotonisch SLC18A2 SLC18A2 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
Pelizaeus-Merzbacher-ähnliche Krankheit AIMP1 AIMP1 5-7
Pelizaeus-Merzbacher-ähnliche Krankheit GJC2 GJC2 4-5
Pelizaeus-Merzbacher-ähnliche Krankheit HSPD1 HSPD1 4-5
PLP1 PLP1 2-3
PLP1 PLP1 2-3
Pendred-Syndrom FOXI1, KCNJ10, SLC26A4 FOXI1, KCNJ10, SLC26A4 15-16
Typ 3 CLPP CLPP 3-4
Autosomal-rezessiv HARS2 HARS2 2-4
Autosomal-rezessiv HSD17B4 HSD17B4 3-4
Typ 4 LARS2 LARS2 3-4
CLPP; HARS2, HSD27B4, LARS2 CLPP; HARS2, HSD27B4, LARS2 4-8
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
STRADA STRADA NULL
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
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
NULL
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
Typ 2 ABCB11 ABCB11 2-4
Typ 3 ABCB4 ABCB4 2-4
Typ 3 ABCB4 ABCB4 2-4
Typ 1 ATP8B1 ATP8B1 2-4
4-8
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
Renal tubuläre Dysgenesie 12
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
TPO, PAX8, FOXE1, NKX2-1, TSHR TPO, PAX8, FOXE1, NKX2-1, TSHR 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
Typ 48 CIB2 CIB2 3-4
NULL
sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel ACADVL ACADVL 2-4
NPHP1, NPHP3, NPHP4, IQCB1, CEP290, SDCCAG8 NPHP1, NPHP3,NPHP4, IQCB1,CEP290,SDCCAG8 4-8
NGS 4-8
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
ACAN, COL10A1, COL2A1, COMP, FGFR3, IHH, NPR2, PTH1R, PTHLH, ROR2, SHOX ACAN,COL10A1,COL2A1,COMP,FGFR3,IHH,NPR2,PTH1R,PTHLH,ROR2,SHOX 4-6
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
DDHD2 DDHD2 NULL
Typ 6 NIPA1 NIPA1 NULL
Typ 7 SPG7 SPG7 8-12
Typ 8 KIAA0196 KIAA0196 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
Störungen der Geschlechtsentwicklung NR5A1 NR5A1 2-4
WNT9B WNT9B 2-4
Stuve-Wiedemann-Syndrom LIFR LIFR 6-8
Surfactant-Protein-Defizienz SFTPC SFTPC 3-4
Surfactant-Protein-Defizienz ABCA3 ABCA3 3-4
Surfactant-Protein-Defizienz ABCA3, SFTPC ABCA3, SFTPC 2-4
NGS ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC ABCA3, CSF2RA, CSF2RB, NKX2-1, SFTPB, SFTPC 6-8
Surfactant-Protein-Defizienz SFTPB SFTPB 3-4
Surfactant-Protein-Defizienz SFTPB SFTPB 2-3
NULL
proximaler GDF5 GDF5 3-4
proximaler NOG NOG 1-3
NGS diverse Gene diverse Gene 4-8
MED13 MED13
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
BRAF, CREBBP, CUL7, DHCR7, HRAS, NIPBL, PTPN11 BRAF,CREBBP,CUL7,DHCR7,HRAS,NIPBL,PTPN11 4-6
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
Typ 1 ENG ENG 4-6
Typ 2 ACVRL1 ACVRL1 4-6
Typ 1,2 ENG, ACVRL1 ENG, ACVRL1 2-3
Typ 5 GDF2 GDF2 4-6
NGS ACVRL1, ENG, SMAD4, GDF2 ACVRL1, ENG, SMAD4, GDF2 4-6
AR AR 2-4
HBA1, HBA2, HBB HBA1, HBA2, HBB 2-4
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
NULL
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
Unverricht Lundborg Epilepsie CSTB CSTB 4-5
CSTB CSTB 3-4
Typ 1D CDH23 CDH23 2-4
Typ 1J CIB2 CIB2 2-4
Typ 2C GPR98/ADGRV1 GPR98/ADGRV1 2-4
Typ 3B HARS HARS 2-4
Typ 1B MYO7A MYO7A 2-4
Typ 1F PCDH15 PCDH15 2-4
Typ 1F PCDH15 PCDH15 2-4
Typ 1C USH1C USH1C 2-4
Typ 1G USH1G USH1G 2-4
Typ 2A USH2A USH2A 2-4
Typ 2A USH2A USH2A 2-4
Typ 3A USH3A USH3A 2-3
Typ 2 D DFNB31 DFNB31 2-4
NGS divers divers 4-8
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
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
8-12
SLC30A2 SLC30A2 4-6
NULL
CHGA CHGA NULL
FOXA2 FOXA2 NULL
RERE RERE NULL
Achondroplasie FGFR3 FGFR3 2-3
Achondroplasie FGFR3 FGFR3 2-4
NGS CNGA3, CNGB3, GNAT2, PDE6C, ATF6 CNGA3,CNGB3,GNAT2,PDE6C,ATF6 4-6
Typ 2 CNGA3 CNGA3 3-4
Typ 3 CNGB3 CNGB3 3-4
Typ 4 GNAT2 GNAT2 3-4
- PDE6C PDE6C 3-4
6 PDE6H PDE6H 3-4
Aniridie PAX6 PAX6 2-4
PAX6, WT1, SOX2 PAX6, WT1, SOX2 2-4
autosomal-rezessiv PKHD1 PKHD1 4-6
FLCN FLCN
- FLCN FLCN 3-4
Bloom-Syndrom BLM BLM 3-4
Bloom-Syndrom 8-10
Typ 1 FKBP10 FKBP10 2-4
NOTCH3 NOTCH3 2-4
NOTCH3 NOTCH3 2-3
2-3
verschiedene Gene für DURS verschiedene Gene für DURS 4-6
DYT25 GNAL GNAL 5-6
SCN8A SCN8A 4-5
0,5
Faktor 7-Mangel F7 F7 4-6
1-2
NULL
NULL
NULL
NULL
Glukose-Galaktose-Malabsorption SLC5A1 SLC5A1 2-4
Ichthyosis congenita TGM1 TGM1 4-6
Harlekintyp ABCA12 ABCA12 9-11
MBOAT7 MBOAT7
kongenitale LCT LCT 3-4
4-8
- CTNNA1 CTNNA1 4-8
NGS APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53 APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53 4-8
NGS AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69, CFAP70, CFTR, CYP11B1, CYP17A1, CYP21A2, DMRT1, DNAH1, DNAH2, DNAH5, DNAH6, DNAH8, DNAH9, DNAH17, DNAJB13, DPY19L2, FANCM, FGF8, FGFR1, FSIP2, FSHB, ..... AMH, AMHR2, ANOS1, AR, ARMC2, AURKC, BNC2, CATSPER1, CCDC39, CFAP43, CFAP44, CFAP47, CFAP65, CFAP69, 4-6
familiäre atypische IFNGR2 IFNGR2 NULL
familiäre atypische IL12B IL12B 10-12
familiäre atypische IL12RB1 IL12RB1 10-12
familiäre atypische STAT1 STAT1 5-6
URAD URAD NULL
Pantothenat-Kinase-assoziierte Neurodegeneration PANK2 PANK2 3-4
PLA2G6-assoziierte Neurodegeneration (PLAN) / infa PLA2G6 PLA2G6 3-4
Typ 2 ERCC6 ERCC6 3-4
- DNAJB11 DNAJB11 3-4
F2 F2 NULL
- WNK1 WNK1 2-4
- WNK4 WNK4 2-4
- WNK4 WNK4 2-4
- KLHL3 KLHL3 2-4
Typ 2 ATXN2/SCA2 ATXN2/SCA2 3-4
Typ 3 ATXN3/SCA3 ATXN3/SCA3 3-4
Typ 7 ATXN7/SCA7 ATXN7/SCA7 3-4
Typ 6 CACNA1A/SCA6 CACNA1A/SCA6 3-4
4-6
Typ 1 SCA1/ATXN1 SCA1/ATXN1 3-4
Typ 1 SCA1/ATXN1 SCA1/ATXN1 4-5
Typ 12 SCA12/PPP2R2B SCA12/PPP2R2B 3-4
Typ 8 SCA8 SCA8 4-5
Typ 17 TBP/SCA17 TBP/SCA17 3-4
SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 3-4
POLR3A POLR3A NULL
Winchester-Syndrom MMP2 MMP2 4-6
Diabetes insipidus centralis      
MED25 MED25 NULL
Diabetes insipidus centralis AVP AVP 2-4
Huntington-ähnliche Erkrankung 2 JPH3 JPH3 3-4
MCOLN1 MCOLN1 NULL
Diabetes insipidus renalis      
- AQP2 AQP2 2-4
- AVPR2 AVPR2 2-4
Diabetes mellitus, neonataler1,4      
- GATA4 GATA4 2-4
- GATA6 GATA6 2-4
NGS ABCC8, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, HNF1B, IER3IP1, INS, KCNJ11, MNX1, NKX2-2, PDX1, PTF1A, WFS1, ZFP57 ABCC8,EIF2AK3,FOXP3,GATA6,GCK,GLIS3,HNF1B,IER3IP1,INS,KCNJ11,MNX1,NKX2-2,PDX1,PTF1A,WFS1,ZFP57 4-6
- PTF1A PTF1A 2-4
Diabetes mellitus, permanenter neonataler      
EXOSC9 EXOSC9 NULL
NGS verschiedene Gene für MIOP verschiedene Gene für MIOP 4-6
Arthrogrypose MYH3 MYH3 6-8
Arthrogrypose SYNE1 SYNE1 4-6
Arthrogrypose TPM2 TPM2 3-4
KCNC3 KCNC3 NULL
NGS BEST1, CA4, CRX, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRPF3, BEST1,CA4,CRX,GUCA1B,IMPDH1,KLHL7,NR2E3,NRL,PRPF3, 4-8
Typ 1 ACTB ACTB 2-4
Typ 2 ACTG1 ACTG1 2-4
Chimerismus 4-5
NULL
APOA5, APOC2, GPIHBP1, LMF1, LPL APOA5, APOC2, GPIHBP1, LMF1, LPL NULL
CINCA-Syndrom CIAS1 / NLRP3 CIAS1 / NLRP3 3-4
CINCA-Syndrom CIAS1 / NLRP3 CIAS1 / NLRP3 3-4
CTSF CTSF NULL
arrhythmogene ventrikuläre Kardiomyopathie, rechts JUP JUP 4-5
NGS DES, LMNA, PKP2, RYR2, CTNNA3, DSC2, DSG2, DSP, JUP, TGFB3, TMEM43, PLN DES,LMNA,PKP2,RYR2,CTNNA3,DSC2,DSG2,DSP,JUP,TGFB3,TMEM43, PLN 4-8
NGS ADAMTS2, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, ADAMTS2, B4GALT7, CHST14, COL1A1, COL1A2, COL3A1, 4-6
hypermobiler Typ TNXB TNXB 2-4
Typ 1 COL5A1 COL5A1 2-4
Typ 1 COL5A2 COL5A2 2-4
Typ 2 COL5A1 COL5A1 2-4
Typ 2 COL5A2 COL5A2 2-4
Typ 6 PLOD1 PLOD1 2-4
Typ 6A PLOD1 PLOD1 2-4
Typ 7A COL1A1 COL1A1 2-4
Typ 7B COL1A2 COL1A2 2-4
Dermatospraxis Typ ADAMTS2 ADAMTS2 2-4
hypermobiler Typ TNXB TNXB 2-4
hypermobiler Typ TNXB TNXB 2-4
muskulo-kontrakturaler Typ CHST14 CHST14 2-4
progeroider Typ B3GALT6 B3GALT6 2-4
vasculär Typ COL3A1 COL3A1 2-4
vasculär Typ COL3A1 COL3A1 2-4
CHD2 CHD2 NULL
benigne familiäre infantile KCNQ2 KCNQ2 4-5
DEPDC5 DEPDC5 5-6
generalisierte, mit Fieberkrämpfen 4-8
Faktor 10-Mangel F10 F10 2-3
3
Folattransport-Defizienz FOLR1 FOLR1 5-7
- OSGEP OSGEP 2-4
verschiedene Gene für FRS verschiedene Gene für FRS 4-8
HIST1H1E HIST1H1E NULL
NGS DICER, FAS, POT1, PTPN11, TP53 DICER, FAS, POT1, PTPN11, TP53 4-6
Hyperinsulinismus-Hyperammonämie-Syndrom GLUD1 GLUD1 2-4
IQSEC2 IQSEC2 NULL
Kolobom PAX6 PAX6 3-4
Laron-ähnliches Syndrom STAT5B STAT5B 2-4
- LMNB2 LMNB2 2-4
4-8
metabolische ADSL, ALDH5A1, ALDH7A1, AMT, CLN3, DPYD, FOLR1, GAMT, GCDH, GLDC, PNPO, POLG, PPT1, SLC2A1, TPP1 ADSL,ALDH5A1, ALDH7A1, AMT, CLN3, DPYD, FOLR1, GAMT, GCDH, GLDC,PNPO,POLG,PPT1,SLC2A1,TPP1 4-8
- MFRP MFRP 3-4
- OTX2 OTX2 3-4
- SOX2 SOX2 3-4
mit Gliedmaßenanomalien SMOC1 SMOC1 3-4
Typ 7 GDF3 GDF3 3-4
Arthrogrypose MYH2 MYH2 6-8
- MAGI2 MAGI2 2-4
- MAGI2 MAGI2 2-4
NPHS1 NPHS1 NPHS1 2-4
NPHS2 NPHS2 NPHS2 2-4
NPHS4 WT1 WT1 1-2
diverse Gene diverse Gene 6
GTPBP2 GTPBP2 2-6
PLA2G6 + PANK2 PLA2G6 + PANK2 2-3
Typ 1, 2, 3, 4 COL1A1 COL1A1 4-6
Typ 1, 2, 3, 4 COL1A1 COL1A1 2-3
Typ 1, 2, 3, 4 COL1A1, COL1A2 COL1A1, COL1A2 4-6
Typ 2, 3, 4 COL1A2 COL1A2 4-6
Typ 2, 3, 4 COL1A2 COL1A2 4-6
Typ 5 und Typ 6 IFITM5 IFITM5 1-3
NGS SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX 4-8
- SDHA SDHA 2-4
- SDHA SDHA 2-4
- SDHB SDHB 2-4
- SDHC SDHC 2-3
- SDHD SDHD 3-4
- TMEM127 TMEM127 3-4
SHANK3 SHANK3 2-3
familiäre progressive kardiale TRPM4 TRPM4 3-4
Shwachman-Diamond-Syndrom SBDS SBDS 2-4
multiple GDF5 GDF5 3-4
- EPCAM EPCAM 4-8
- EPCAM EPCAM 2-3
NULL
VHL VHL 2-4
VHL VHL 2-4
SFXN4 SFXN4 NULL
Diabetes mellitus, transienter neonataler      
NULL
3M-Syndrom CCDC8 CCDC8 2-4
3M-Syndrom CUL7 CUL7 2-4
3M-Syndrom OBSL1 OBSL1 2-4
Typ A2 GDF5 GDF5 2-4
Typ C GDF5 GDF5 2-4
Typ D/E HOXD13 HOXD13 4-5
- CALM-AF10 CALM-AF10 2
- CBFB-MYH11 CBFB-MYH11 2
MME MME NULL
Tpy 5 HDAC8 HDAC8 4-6
Tpy 1 NIPBL NIPBL 4-6
Typ 2 SMC1A SMC1A NULL
NGS 4-6
- DEK-CAN DEK-CAN 2
ALDH7A1 ALDH7A1 2-4
PLA2G5 PLA2G5 2-4
ACTL6A ACTL6A 2-4
SLC9A6 SLC9A6 NULL
NGS verschiedene Gene verschiedene Gene 4-6
PLEC PLEC
Typ 1 CCBE1 CCBE1 8-9
Typ 2 FAT4 FAT4 8-9
Herzfehler, konotrunkaler NKX2-6 NKX2-6 2-4
Herzfehler, konotrunkaler TBX1 TBX1 2-4
ohne Methylmalonazidurie MTRR MTRR 2-4
ohne Methylmalonazidurie MTR MTR 2-4
NGS verschiedene Gene für CORN verschiedene Gene für CORN 4-6
L1CAM L1CAM 3-4
- APOB APOB NULL
- APOB APOB 2-4
- APOB APOB 2-3
- LDLR LDLR 2-4
- LDLR LDLR 3-4
- LDLRAP1 LDLRAP1 2-4
NGS APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, STAP1 APOB,CETP,LDLR,LDLRAP1,LIPA,PCSK9,STAP1 4-6
- PCSK9 PCSK9 2-4
- STAP1 STAP1 2-4
- ABCC8 ABCC8 2-4
- ABCC8 ABCC8 2-4
- HADH HADH 2-4
- INSR INSR 2-4
- KCNJ11 KCNJ11 2-4
NGS ABCC8, KCNJ11, GLUD1, GCK, HNF4A, SLC16A1, UCP2, HADH, ... ABCC8,KCNJ11,GLUD1,GCK,HNF4A,SLC16A1,UCP2,HADH,... 4-8
- PIK3CA PIK3CA 2-4
Hypoaldosteronismus, familiärer CYP11B2 CYP11B2 2-4
HIVEP2 HIVEP2 NULL
JPM-Syndrom PSMB8 PSMB8 8-12
FERMT1 FERMT1 NULL
- CBL CBL 2
- CEBPA CEBPA 2
- FLT3 FLT3 2
- IDH1 IDH1 2
- IDH2 IDH2 2
- KIT KIT 2
- KMT2A-ELL KMT2A-ELL 2
- KMT2A-MLLT1 KMT2A-MLLT1 2
- KMT2A-MLLT3 KMT2A-MLLT3 2
- KMT2A-MLLT4 KMT2A-MLLT4 2
- KRAS KRAS 2
- MLL-PTD/KMT2A-PTD MLL-PTD/KMT2A-PTD 2
NGS ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP53 , WT1 ASXL1, BCOR, CEBPA, DNMT3A, FLT3, GATA2, IDH1, IDH2, KRAS, KIT, NPM1, NRAS, PTPN11, RUNX1, TET2, TP 2
- NPM1 NPM1 2
- NPM1 NPM1 2
- NPM1-MLF1 NPM1-MLF1 2
- RUNX1 RUNX1 2
- TET2 TET2 2
- WT1 WT1 2
Hyperhomocysteinämie durch MTHFR-Mangel MTHFR MTHFR 1-2
Hyperhomocysteinämie durch MTHFR-Mangel MTHFR MTHFR 1-2
DOK7 DOK7 NULL
KIAA2018 KIAA2018 NULL
SSR4 SSR4 NULL
PLCE1, TRPC6, ACTN4, WT1, SMARCAL1, LAMB2, ITGB4, COQ2, CO PLCE1,TRPC6,ACTN4,WT1,SMARCAL1,LAMB2,ITGB4,COQ2,CO 4-6
PAPA-Syndrom PSTPIP1/CD2BP1 PSTPIP1/CD2BP1 2-3
ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS ALAD, ALAS2, CPOX, FECH, HMBS, PPOX, UROD, UROS 4-6
erythropoetische Protoporphyrie FECH FECH 8-20
- RUNX1-RUNX1T1 RUNX1-RUNX1T1 2
NGS ALPL, ANKH, AP2S1, CASR, CDC73, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAM20C, FGF23, GCM2, GNA11, HRAS, NRAS, OCRL, PHEX, SLC34A1, SLC34A3, SLC9A3R1, TRPV6, VDR ALPL, ANKH, AP2S1, CASR, CDC73, CLCN5, CYP27B1, CYP2R1, DMP1, ENPP1, FAM20C, FGF23, GCM2, GNA11, HRA 4-6
Sorsby Fundusdystrophie TIMP3 TIMP3 4-6
NULL
NGS BBS1, BBS10, DYRK1B, KSR2, LEP, LEPR, MC3ALMS1, BBS1, BBS10, BBS12, BBS2, GNAS, MKKS, MKS1, PHF6 BBS1,BBS10,DYRK1B,KSR2,LEP,LEPR,MC3ALMS1,BBS1,BBS10,BBS12,BBS2,GNAS,MKKS,MKS1,PHF6 4-6
verschiedene Gene für WARBM verschiedene Gene für WARBM NULL
hypophosphatämische Rachitis 4-6
Monogener Diabetes      
NGS ABCC8, EIF2AK3, FOXP3, GATA6, GCK, HNF1A, HNF4A, INS, INSR, KCNJ11, PAX6, PDX1, SLC2A2, MT-TL1 ABCC8,EIF2AK3,FOXP3,GATA6,GCK,HNF1A,HNF4A,INS,INSR,KCNJ11,PAX6,PDX1,SLC2A2,MT-TL1 4-8
Diabetes mellitus, neonatal1,4      
CHD4 CHD4 NULL
GOLGA2 GOLGA2 NULL
PRIMA1 PRIMA1 NULL
4-6
- GLI3 GLI3 3-5
- GLI3 GLI3 2-3
NGS CYP21A2, CYP17A1, CYP11B1, HSD3B2, POR, STAR CYP21A2, CYP17A1, CYP11B1, HSD3B2, POR, STAR 4-8
ALAD ALAD 4-8
8-12
4-6
4-6
4-6
4-6
BCKDK BCKDK 2-4
SLC19A3 SLC19A3 2-4
Börjeson-Forssman-Lehmann-Syndrom PHF6 PHF6 2-4
Typ 4 CACNB2 CACNB2 NULL
Typ 8 HCN4 HCN4 4-8
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
NGS MYC, ARID1A, CCND3, CREBBP, GNA13, ID3, TP53 MYC, ARID1A, CCND3, CREBBP, GNA13, ID3, TP53 2
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
VLDLR VLDLR NULL
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
PCDH19 PCDH19 NULL
6-10
- FANCD1/BRCA2 FANCD1/BRCA2 4-8
FH FH 2-4
Galaktokinase-Mangel GALK1 GALK1 2-4
6-10
FGD Typ 1 MC2R MC2R 2-4
MCM4 MCM4 2-4
FGD Typ 2 MRAP MRAP 2-4
Glutaryl-CoA-Dehydrogenase-Mangel GCDH GCDH 8-12
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 1 A PMM2 PMM2 4-8
kongenitaler, Typ 1B MPI MPI 2-4
RFT1 RFT1 3-6
kongenitaler Typ 1T PGM1 PGM1 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
infantile Hyperkalziurie CYP24A1 CYP24A1 2-4
NGS 4-6
PGAP3 PGAP3 NULL
NALCN NALCN NULL
juvenile Makuladegeneration CDH3 CDH3 4-5
Immundefizienz 47 ATP6AP1 ATP6AP1 4-8
KMT2C KMT2C NULL
EHMT1 EHMT1 NULL
RNU4ATAC RNU4ATAC 6-8
letale Form FAM20C FAM20C 4-8
ROGDI ROGDI
Typ 8 EPCAM EPCAM 4-8
Typ 8 EPCAM EPCAM 3-4
Typ 2 MLH1 MLH1 4-6
Typ 1 / 2 MLH1, MSH2 MLH1, MSH2 4-6
Typ 7 MLH3 MLH3 4-6
Typ 1 MSH2 MSH2 4-6
MSH6, EPCAM MSH6, EPCAM 4-6
Typ 5 MSH6 MSH6 4-6
NGS MLH1, MSH2, MSH6, PMS2, EPCAM MLH1, MSH2, MSH6, PMS2, EPCAM 4-8
Typ 4 PMS2 PMS2 4-6
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 1 und 2 CYB5R3 CYB5R3 2-4
Typ 1 und 2 CYB5R3 CYB5R3 4-8
Typ cblA MMAA MMAA 2-4
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
Typ 6 CREB3L1 CREB3L1 4-8
- PLOD2 PLOD2 3-4
- SEC24D SEC24D 4-8
Typ 6 SERPINF1 SERPINF1 3-4
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 7 CRTAP CRTAP 3-5
Typ 8 LEPRE1/P3H1 LEPRE1/P3H1 3-4
Typ 9 PPIB PPIB 3-4
MIPEP MIPEP NULL
epidermolytische palmoplantare Keratose KRT9 KRT9 4-8
mitochondrial 3-4
FLNA FLNA 4-6
TWNK TWNK 2-4
PNMT PNMT NULL
GYG1 GYG1 2-4
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
klassisches 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
NGS DICER1, HRAS, NF1, PTPN11, TP53 DICER1, HRAS, NF1, PTPN11, TP53 4-6
PAX3 PAX3 3-4
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
FLNB FLNB 2-3
FLNB FLNB 3-4
FLNB FLNB 5-6
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
NGS JAK2, MPL, THPO JAK2, MPL, THPO 4-6
- THPO THPO 4-6
PCGF2 PCGF2
ANKS4B ANKS4B 2-4
Typ 1 ASS1 ASS1 4-6
Typ 2 SLC25A13 SLC25A13 4-6
RCAD (renales Zysten- und Diabetes-Syndrom)1,3      
autosomal-dominante CHRNA2, CHRNA4, CHRNB2, CRH, DEPDC5, KCNT1 CHRNA2, CHRNA4, CHRNB2, CRH, DEPDC5, KCNT1 4-8

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.

Nach Anfangsbuchstaben