Neuromuscular disorders (NMD) are a clinically and genetically diverse group of conditions affecting the peripheral nervous system and muscle, including muscular dystrophies, congenital myopathies and congenital myasthenic syndrome. Most NMDs have an underlying genetic basis, although there are also acquired forms NMD such as botulism and pharmaceutical induced myopathies. Onset of symptoms is variable between different NMD, and can range from prenatal onset to childhood or adult onset conditions. It is becoming increasingly recognized that many genes associated with NMD can lead to multiple disease phenotypes in different families, and some can be associated with both autosomal dominant and recessive inheritance. This panel includes sequence and deletion/duplication analysis of all the listed genes.
Institutional Price
$2,000.00
TAT
6 weeks
CPT Code
81443
Test Code
3118
Test Methods
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Documents
Genes
Additional Information
Any gene in the Neuromuscular Disorders Panel can also be ordered individually. Please contact us directly for cost and CPT code information.
This assay includes analysis for the recurrent c.930+189C>T deep intronic variant in the COL6A1 gene.