Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous neuromuscular disorders with onset at birth or in infancy in which the muscle biopsy is compatible with a dystrophic myopathy.  CMDs are generally characterized by diminished muscle tone (hypotonia), which is sometimes referred to as "floppy baby"; progressive muscle weakness and degeneration (atrophy); abnormally fixed joints that occur when thickening and shortening of tissue such as muscle fibers cause deformity and restrict the movement of an affected area (contractures); spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. Feeding difficulties and breathing (respiratory) complications can develop in some cases. Most forms of CMD are inherited in an autosomal recessive pattern. 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 
3102
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
Any gene in the Congenital Muscular Dystrophy 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.
If no pathogenic sequence changes are identified in this panel, we are able to reflex to analysis of selected panels related to neuromuscular disease at no additional charge. Please contact one of our genetic counselors for more information.