Waardenburg Syndrome Panel – PAX3 and MITF Genes

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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)
 
SPECIMEN REQUIREMENTS:
  • 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.
A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.
 
Note: Counseling and informed consent are recommended for genetic testing. A consent form is available as a resource but not required.
 
INTERPRETATIVE DATA:
 
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.
ADDITIONAL RESOURCES:
OMIM - Waardenburg Syndrome Type 1: http://omim.org/entry/193500
OMIM - Waardenburg Syndrome Type 3: http://omim.org/entry/148820
OMIM - Waardenburg Syndrome Type 2: www.omim.org/entry/193510
Genetics Home Reference: www.ghr.nlm.nih.gov/gene/PAX3
Genetics Home Reference: www.ghr.nlm.nih.gov/gene/MITF