Order Waardenburg Syndrome Panel (6 Genes) Test
Waardenburg syndrome (WS) is characterized by pigmentation abnormalities of the eyes, hair, and skin and hearing loss. Up to 90% of individuals have sensorineural hearing loss, and its severity can be variable. Inner ear malformations such as enlarged vestibular aqueducts or abnormalities of the semicircular canals can be present (Pingault 2010). Read more about this test.
All samples must be accompanied with a completed requisition form. Please make sure any identifiers used on the specimens 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.
EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10
- 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.
For questions, please contact us at 617-768-8500 or by email.