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.