Molecular
genetic diagnostics
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Ataxia-Oculomotor Apraxia
type 1 & 2
Canavan
Caveolinopathie
(LGMD1C)
Central Core Disease
Congenitale autosomal-recessive deafness
Congenitale muscle dystrophy with primary merosin deficit
Dentatorubral-Pallidoluysian Atrophy
Dysplasia Schimke(SMARCAL1)
Episodic Ataxia Type 1 (EA-1)
Episodic Ataxia Type 2 (EA-2)
Factor V/Leiden-Mutation
Familial hemiplegic migraine (FHM)
Fra(X)
Friedreich Ataxia
Glucocorticoid-suppressible hyperaldosteronism (GSH)
Hereditary non-polyposis Colon-Carcinome (HNPCC)
Hereditary sensory and autonomic neuropathies (HSAN)
Hereditary spastic paraplegia (HSP/SPG)
HNPP & CMT (HMSN type I, II and type III)
Juvenile amyotrophic sclerosis (ALS4)
Malignant hyperthermia (MSD)
Morbus Alexander
Morbus Huntington
Morbus Sandhoff
Morbus Tay Sachs
Morbus Tay Sachs (AB variant)
Myotilinopathy (LGMD1A)
Nemaline
Myopathy (NEM)
Neurofibromatosis type 1
Neurofibromatosis type 2
NBIA (Hallervorden-Spatz syndrome, PKAN)
Progressive retina atrophy
RETT syndrome
Sarkoglykanopathy
Spinocerebellar ataxia (SCA)
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