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Molekulargenetische Diagnostik

Molecular Genetic Diagnostics

Contact for molecular genetic testing:

Frau Birgit Neitzel
Tel. +49 (0)89/30 90 886-553

Molecular Genetic Diagnostics

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Muscular Diseases

PD Dr. med. Angela Abicht, Dr. rer. biol. hum. Stefanie Bulst

Congenital Muscular Dystrophy (CMD) – CHKB, COL6A1, COL6A2, COL6A3, FKRP, LMNA, LAMA2

Core Myopathies - RYR1, SEPN1

Limb-Girdle Muscular Dystrophy - CAV3, FKRP

Malignant Hyperthermia (MH) - RYR1, CACNA1S

Muscular Dystrophy Duchenne and Becker-Kiener - DMD

Muscular Dystrophy Emery-Dreifuss, Type LGMD1B, EDMD2 - LMNA

Myoadenylate Deaminase Deficiency, MAD - AMPD1

Myotonic Dystrophy Type 1, DM1 - DMPK

Myotonic Dystrophy Type 2, DM2 - ZNF9 (CNBP)

Nemaline Myopathy - ACTA1, NEB, TPM2, TPM3, TNNT1, CFL2, KBTBD13

Neutral Lipid Storage Disease with Myopathy - PNPLA2, ETFDH, CPT2

Myotonia Congenita - CLCN1

Paramytonica congenita - SCN4A

Periodic Paralysis - SCN4A, CACNA1S

Centronuclear Myopathy - MTM1, DNM2, RYR1, BIN1

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