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Categorical order

Neuromuscular disorders
Disease Gene OMIM TAT in weeks
Charcot-Marie-Tooth disease1,3      
X-chromsomal Cx32 / GJB1 304040 3-4
dominant intermediate B DNM2 602378 3-4
dominant intermediate D MPZ 159440 4-5
type 1A PMP22 601097 2-3
type 1B MPZ 159440 3-4
type 1C LITAF 603795 3-4
type 1D EGR2 129010 3-4
type 1E PMP22 601097 3-4
type 2A MFN2 608507 3-4
type 2F HSPB1 602195 3-4
type 2H GDAP1 606598 3-4
type 2I MPZ 159440 3-4
type 2J MPZ 159440 4-5
type 2K GDAP1 606598 3-4
type 4A GDAP1 606598 3-4
type 4E EGR2 129010 3-4
type 4F PRX 605725 3-4
type 5 PRPS1 311950 3-4
Krabbe disease GALC 606890 6-10
Limb-Girdle Muscular Dystrophy      
LGMD2A CAPN3 114240 2-4
Marinesco-Sjogren syndrome SIL1 608005 3-4
Musyular Dystrophy      
Duchenne / Becker DMD 300377 2-4
Duchenne / Becker DMD 300377 4-6
Neuropathy, hereditary sensory and autonomic      
Type 5 NGF 162030 3-4
Pelizeus Merzbacher Disease PLP1 300401 2-3
hereditary neuropathy with liability to pressure palsies PMP22 601097 3-4
muscular dystrophy      
congenital LAMA2 156225 2-4
congenital LAMA2 156225 8-10
myopathy      
metabolic AGL, CPT2, ETFA, ETFB, ETFDH, GAA, GBE1, LPIN1, PFKM, PYGM, RRM2B, SLC22A5 und weitere 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 ‚Äčin Ingelheim, exceptions are those marked with *, which are carried out in ‚Äčcollaborating laboratories.

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