Accredited laboratories for genetic diagnosis of neuromuscular disorders

In order to provide physicians and clinical geneticists with information on european laboratories performing tests for genetic diseases, Eurogentest (www.eurogentest.org) and Orphanet (www.orpha.net) have in collaboration produced each a database particularly useful for finding accredited laboratories for diagnosis of neuromuscular disorders (as well as other genetic diseases). The two databases share information and cross refer to each other. Information is given for accredited, External Quality Assessment participating, and licenced laboratories. For search (”Full text search”) in the Eurogentest database (www.eurogentest.org/web/qa/basic.xhtml) use the search terms below to find laboratories:

Duchenne muscular dystrophy

(Dystrophin), 57 labs:
Duchenne

Spinal muscular atrophy

(SMN1), 43 labs:
Spinal muscular atrophy

Limb-girdle muscular dystrophy

LGMD1B (Lamin A/C), 5 labs:
muscular dystrophy, limb-girdle, autosomal dominant, type 1B
LGMD1C (Caveolin-3), 3 labs:
muscular dystrophy, limb-girdle, autosomal dominant, type 1C
LGMD 2A (Calpain-3), 9 labs:
Calpainopathy
LGMD 2B, Miyoshi (Dysferlin), 5 labs:
muscular dystrophy, limb-girdle, autosomal recessive, type 2B
LGMD 2C (g-sarcoglycan), 6 labs:
Gamma-sarcoglycanopathy
LGMD 2D (a-sarcoglycan), 7 labs:
Alpha-sarcoglycanopathy
LGMD 2E (b-sarcoglycan), 6 labs:
Beta-sarcoglycanopathy
LGMD 2F (d-sarcoglycan), 6 labs:
Delta-sarcoglycanopathy
LGMD2I (FKRP), 6 labs:
FKRP
LGMD 2I (titin), 1 lab:
Titin

Congenital muscular dystrophy (CMD)

MDC1A (Merosin, laminin a2), 7 labs:
Muscular dystrophy congenital, merosin-negative
MDC1C (FKRP), 6 labs:
FKRP
Fukuyama congenital muscular dystrophy (FCMD), 3 labs:
FCMD
Muscle-eye-brain disease (POMGnT1), 3 labs:
Muscle eye brain disease
Walker-Warburg syndrome (POMT1), 1 lab:
walker-warburg syndrome
Rigid spine syndrome (SEPN1), 1 lab:
Rigid spine syndrome
Ullrich congenital muscular dystrophy (COL6A1, COL6A2, COL6A3), 2 labs:
Ullrich