Muscle Disorders
Hereditary muscle disorders encompass a variety of genetically determined conditions that impair muscle function. These include limb-girdle muscular dystrophies (LGMD), myofibrillar myopathies (MFM), and distal myopathies, which lead to muscle weakness and atrophy. Congenital muscular dystrophies and myopathies typically manifest in infancy and are characterized by generalized muscle weakness.
Request Test
- Sample material: EDTA whole blood
- Testing method: Next-generation sequencing (if applicable, Sanger sequencing, MLPA, molecular diagnostics using PCR)
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC SERVICES
The following table presents our indication-specific testing services in this area:
| INDICATION | ANALYSIS |
| Limb-girdle muscular dystrophy (LGMD), myofibrillar myopathy (MFM), and distal myopathy | Gene panel |
| Congenital muscular dystrophy | Gene panel |
| Congenital myopathy | Gene panel |
| Hereditary hemorrhagic telangiectasia (Osler disease) | Gene panel |
| Duchenne/Becker muscular dystrophy | Single gene analysis (DMD) |
| Spinal muscular atrophy (SMA) type I, II, III | Single gene analysis (SMN1, SMN2) |
The genes analyzed in the respective gene panels are always based on the current versions of Genomics England PanelApp, PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic clinical presentation, it is possible to request exome sequencing based on phenotypic features.