Order Congenital Central Hypoventilation Panel (6 Genes) Test
The Central Hypoventilation Syndrome Panel sequences 6 genes associated with congenital central hypoventilation syndrome (CCHS). CCHS is a rare, autosomal dominant condition that classically can present in newborns with hypoventilation, shallow breathing, and autonomic nervous system dysregulation. CCHS is also associated with defects in the development of neural crest structures and/or tumors of neural crest origin. Read more details about the test.
All samples must be accompanied with a completed requisition form. Please make sure any identifiers used on the specimen is 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.
ASCL1, BDNF, EDN3, GDNF, PHOX2B, RET
- 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.
81404 (1), 81479 (1)
For questions, please contact us at 617-768-8500 or by email.