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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)


Order form molecular genetic diagnostics

Human Genetics department
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