Cost 
$2,000.00
TAT 
8 weeks
CPT Code 
81407
Test Code 
3126
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.

Congenital fiber-type disproportion (CFTD) is a type of congenital myopathy characterized by hypotonia and muscle weakness that varies from mild to severe. The majority of individuals have static weakness. Other features can include feeding difficulties, respiratory failure, ophthalmoplegia, ptosis, contractures and spinal deformities. Histopathologic findings of the condition include type 1 fibers that are at least 12% smaller than type 2 fibers on muscle biopsy. CFTD can be inherited in an autosomal dominant or recessive manner. X-linked inheritance has also been described in some affected families, however the associated gene has not been identified to date.