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Alphabetical order

Disease Gene OMIM TAT in weeks
3-methylcrotonyl-CoA carboxylase 1 deficiency* MCCC1 609010 2-4
3-methylcrotonyl-CoA carboxylase 2 deficiency* MCCC2 609014 2-4
3M syndrome CUL7 609577 2-4
3m syndrome      
NGS CUL7, OBSL1, CCDC8 999999 4-6
M1,3 PDE11A 2-4
Macrosomia and overgrowth syndromes (NGS) CDKN1C, DIS3L2, DNMT3A, EED, EZH2, GPC3, NFIX, NSD1, PTEN, SUZ12 4-6
Mainzer-Saldino syndrome IFT172 607386 3-5
Mainzer-Saldino syndrome/Short-rib thoracic dysplasia 9 with or without polydactyly IFT140 614620 3-5
Majeed syndrome LPIN2 605519 4-6
mantle cell lymphoma      
NGS ATM, CCND1, CDKN2A, CHD2, NOTCH1, NOTCH2, TP53, TRAF2, TET2, UBR5 2
maple syrup urine disease      
NGS BCKDHA, BCKDHB, DBT, DLD 4-6
type 1A BCKDHA 608348 2-4
type 1B BCKDHB 248611 2-4
type 2 DBT 248610 2-4
Marfan syndrome1,3      
Marfan syndrome FBN1 134797 2-4
NGS FBN1, TGFBR1, TGFBR2 134797, 190181, 190182 4-6
Marinesco-Sjogren syndrome SIL1 608005 3-4
mastocytosis      
NGS ASXL1, CBL, ETNK1, EZH2, IDH1, IDH2, JAK2, KIT, KRAS, NRAS, RUNX1, SRSF2, TET2, U2AF1 164920 2
Mayer-Rokitansky-Küster-Hauser syndrome      
HNF1ß/TCF2 137920 2-4
LHX1 601999 2-4
WNT4 603490 2-4
WNT4 603490 2-4
McCune-Albright syndrome GNAS 139320 4-6
Meckel-Gruber syndrome1,2,3      
MKS1 MKS1 609883 3-5
MKS10 B9D2 611951 2-4
MKS11 TMEM231 614949 3-5
MKS2 TMEM216 613277 2-4
MKS3 TMEM67 609884 3-5
MKS4 CEP290 610142 2-5
MKS5 RPGRIP1L 610937 3-5
MKS6 CC2D2A 612013 3-5
MKS7 NPHP3 607100 3-5
MKS8 TCTN2 613846 3-5
MKS9 B9D1 614144 2-4
TMEM107 616183 3-5
Medium-chain acyl-CoA dehydrogenase deficiency      
Medium-chain acyl-CoA dehydrogenase deficiency ACADM 607008 2-4
Medium-chain acyl-CoA dehydrogenase deficiency ACADM 607008 2-4
medulloblastoma      
NGS APC, BRCA2, MSH2, MSH6, PMS2, PALB2, PTCH1, SUFU, SMOH, TP53 4-8
megalencephaly-capillary malformation-polymicrogyria syndrome, somatic      
megalencephaly-capillary malformation-polymicrogyr PIK3CA 171834 3-4
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome AKT3 611223
melanoma, hereditary      
type 3 CDK4 123829 4-6
MELAS syndrome* mtDNA 2-4
Melnick-Needles syndrome FLNA 300017 4-6
Menke disease1 ATP7A 300011 3-4
methemoglobinemia      
type 1 and 2 CYB5R3 613213 4-8
Methylmalonic aciduria (MMAB)      
cblB MMAB 607568 2-4
microcephaly1,3      
- IER3IP1 609382 3-5
- KIF11 148760 3-5
- PCNT 605925 3-5
- RBBP8 604124 4-6
- RTTN 610436 3-5
- SLC25A19 606521 3-5
- TRAPPC9 611966 3-5
- TUBB2B 612850 3-5
MCPH1 MCPH1 607117 3-5
MCPH2 WDR62 613583 3-5
MCPH3 CDK5RAP2 608201 3-5
MCPH4 CASC5 609173 3-5
MCPH4, MCPH9 CEP152 613529 3-5
MCPH5 ASPM 605481 3-5
MCPH6 CENPJ 609279 3-5
Microphthalmia1      
with limb anomalies SMOC1 608488 3-4
microphthalmia1      
- MFRP 606227 3-4
- OTX2 600037 3-4
- SOX2 184429 3-4
migraine1      
familial hemiplegic ATP1A2, CACNA1A, NOTCH3, SCN1A 182340, 601011, 600276, 182389 4-8
familial hemiplegic type 1 CACNA1A 601011 4-6
mismatch repair deficiency, constitutional      
NGS MLH1, MSH2, MSH6, PMS2 120436, 609309, 600678, 600259 4-8
Mitchell-Riley syndrome (RFX6) RFX6 612659 2-4
MITF-related melanoma and renal cell carcinoma predisposition syndrome1,3 MITF 156845 3-4
MODY1,3      
MLPA HNF1A, GCK, HNF4A und HNF1ß 142410, 138079, 600281, 189907 2-4
NGS HNF4A, HNF1A, HNF1B, GCK, IPF1/PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1 4-6
type 1 HNF4A 600281 2-4
type 2 GCK 138079 2-4
type 3 HNF1A 142410 2-4
type 4 IPF1/PDX1 600733 2-4
type 5 HNF1B 189907 2-4
monogenic Diabetes      
NGS ABCC8, EIF2AK3, FOXP3, GATA6, GCK, HNF1A, HNF4A, INS, INSR, KCNJ11, PAX6, PDX1, SLC2A2, MT-TL1 4-8
monogenic insulin resistance      
NGS AGPAT2, AKT2, BSCL2, CAV1, CIDEC, FBN1, INSR, LMNA, LMNB2, PPARG, PTRF, ZMPSTE24 4-8
Morbus Crohn NOD2/CARD15 605956 2-4
Morbus Waldenstrom      
NGS MYD88, CXCR4, ARID1A, KMT2D (MLL2) 2
mucopolysaccharidosis      
NGS ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH 4-6
Muenke syndrome FGFR3 134934 1-2
MULIBREY nanism      
- TRIM37 605073 2-4
Multi-locus imprinting defects PLAGL1, GRB10, MEST, H19, KCNQ1OT1, DLK1, MEG3, RTL1, SNRPN, PEG3, GNAS 603044,601523,601029,103280,604115,176290,611896,182279,601483,139320 2-4
multiple intestinal atresia* TTC7A 609332 4-5
multiple myeloma      
NGS BRAF, DIS3, FAM46C, KRAS, NRAS, TP53 2
muscle eye brain syndrome* POMGNT1 606822 5-6
muscular dystrophy      
congenital LAMA2 156225 2-4
congenital LAMA2 156225 8-10
Musyular Dystrophy      
Duchenne / Becker DMD 300377 2-4
Duchenne / Becker DMD 300377 4-6
myelodysplastic syndrome      
NGS ASXL1, BCOR, CBL, DNMT3A, ETV6, EZH2, FLT3, GATA2, IDH1, IDH2, JAK2, KRAS, MPL, NPM1, NRAS, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SRSF2, STAG2, TET2, TP53, U2AF1, WT1, ZRSR2 2
myeloid neoplasms with eosinophilia      
NGS ASXL1, CBL, EZH2, ETNK1, IDH2, JAK2, KIT, SETBP1, SF3B1, TET2 2
MYH9-related disorders3 MYH9 160775 2-4
myoglobinuria      
genetic recurrent LPIN1 605518 2-4
myopathy      
metabolic AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere 4-8
myopia      
NGS verschiedene Gene für MYOP 999999 4-8
myotonic dystrophy*      
type 1 DMPK 605377 4-8
type 2 ZNF9/CNBP1 116955 6-8

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¹ We offer molecular testing for all genes known for this disease. In some cases, specific genotype - phenotype correlations exist that allow for targeted testing. Please contact us.
² We offer linkage analysis where applicable (e. g., samples available from several family members, parental consanguinity) for prioritization of genes to be tested.
³ Step-by-step analysis
All Analysis are carried out ​in Ingelheim, exceptions are those marked with *, which are carried out in ​collaborating laboratories.

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