WAARDENBURG SYNDROME PANEL - PAX3 AND MITF GENES
Tests Performed in Panel: Waardenburg Syndrome, types 1, 2 and 3 (PAX3 & MITF genes)
See Individual Test pages for additional information.
TURNAROUND TIME: 4 weeks
TESTING METHODOLOGY: Polymerase chain reaction (PCR) and DNA Sequencing of the PAX3 and MITF genes (please see individual test pages)
- Collect: Prefer two 5ml whole blood EDTA (lavender top) tube.
- Min. Collection: 0.7 ml whole blood EDTA.
- Transport: blood EDTA at Room Temp shipped regular next day air (No Saturday delivery; store specimen at 4°C and ship Monday).
- Stability: Ambient: up to 7 days; Refrigerated: 2 weeks. Frozen: unacceptable
- Unacceptable Conditions: Serum. Frozen or severely hemolyzed blood. Clotted blood.
- Prenatal testing: Direct: 5ml direct unspun amniotic fluid or 15mg CVS tissue with a backup flask growing. Culture: confluent T25 flask. Maternal blood sample is required for maternal cell contamination studies.
Counseling and informed consent are recommended for genetic testing. A consent form
is available as a resource but not required.
Incidence: Estimates range from 1:20,000 to 1:40,000
Inheritance: Autosomal dominant
Disease Characteristics: Congenital sensorineural hearing loss and pigmentary abnormalities of the iris, hair, and skin. The hearing loss is typically non-progressive, sensorineural, and may be either unilateral or bilateral. Symptoms are highly variable even within families.
Clinical Sensitivity: Please see individual test pages
Analytic Sensitivity: >99%
Test Limitations: Please see individual test pages
INDICATIONS FOR USE:
- To determine whether a hearing defect in a child is hereditary.
- To assess the risk of additional children with hearing loss in an affected family.
- Individuals at risk who wish prenatal diagnosis.