Neuromuscular Panels offer comprehensive genetic analyses of the genes associated with a wide spectrum of neuromuscular disorders, including amyotrophic lateral sclerosis, ataxia, congenital myopathy, dystonia, muscular dystrophies, neuropathies, and spastic paraplegia, aiding in precise diagnosis and understanding the genetic basis of these conditions.
Test ID | Disorder | Genes |
---|---|---|
NMDT_001 | Amyotrophic lateral sclerosis | 30 genes |
NMDT_002 | Ataxia (eg: Cerebellar ataxia, Epilepsy-associated ataxia, Episodic ataxia, Spinocerebellar ataxia) | 151 genes |
NMDT_003 | Congenital myasthenic syndrome | 19 genes |
NMDT_004 | Dystonia (eg: Dystonia associated with neurodegeneration with brain iron accumulation, Focal dystonia, Generalized dystonia, Parkinsonism associated dystonia) | 98 genes |
NMDT_005 | Muscular dystrophy (eg: Collagen type VI-related disorders, Dystrophinopathies, Emery-Dreifuss muscular dystrophy, Spinal muscular atrophy) | 76 genes |
NMDT_006 | Myopathy (eg: Bethlem myopathy, Congenital fiber-type disproportion, Nemaline myopathy) | 80 genes |
NMDT_007 | Neuropathy (eg: Charcot-Marie-Tooth disease) | 109 genes |
NMDT_008 | Spastic paraplegia | 55 genes |
Methodology: | NGS |
Sample Type | Container | Shipping Conditions | Max Transit Time |
---|---|---|---|
Blood | EDTA Tube | 4–8 °C | 72 hrs |
Saliva | Saliva Collection Kit | 4–8 °C | 48 hrs |
Genomic DNA | 1.5 ml Eppendorf Tube | 4–8 °C | 48 hrs |
Dry Blood Spot | Whatmann Paper | RT | 72 hrs |
Cheek/Buccal Swab | Saliva Collection Kit | 4–8 °C | 48 hrs |
21 Days