Order Congenital Myopathy Panel (14 Genes) Test
All samples must be accompanied with a completed requisition form. Please make sure any identifiers used on the specimen are provided on the paperwork. Consent page should be signed by a health care provider. Any incomplete or missing paperwork may delay the start of testing.
ACTA1, BIN1, CFL2, DNM2, KLHL40, MTM1, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3, TTN
- Next Generation Sequencing (copy number analysis included when data meets quality standards)
- Sanger Confirmation
7ml of whole blood (3–5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA)
10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration)
The Laboratory for Molecular Medicine offers several billing options for our clients and their patients; however, we do not bill insurance companies and are unable to begin testing without accurate billing information.
81406 (1), 81407 (1), 81408 (2), 81479 (1)
For questions, please contact us at 617-768-8500 or by email.