Cost 
$2,000.00
TAT 
8 weeks
CPT Code 
81407
Test Code 
3122
Test Methods 
Sequencing
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
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.

Centronuclear myopathy (CNM), also known as myotubular myopathy, is a rare muscle disease associated with non-progressive or slowly progressive muscle weakness that can develop from infancy to adulthood.  On muscle histopathology, patients with CNM have increased frequency of central nuclei, as well as predominance of type 1 fibers and hypotrophy, in the absence of other significant abnormalities. Approximately 80% of males with a diagnosis of myotubular myopathy by muscle biopsy will have a mutation in MTM1 identifiable by sequence analysis, which is an X-linked gene. Dominant and recessive forms of CNM also exist.