Number of Panel Genes: 
7

Waardenburg syndrome (WS) is a clinically and genetically heterogeneous disorder. Congenital sensorineural hearing loss and abnormal pigmentation of the hair, skin, and eyes are common clinical findings in all WS subtypes. Typical eye pigmentation abnormalities are complete or partial heterochromia of irides and bright blue eyes. Pigmentary hair changes include white forelock and premature graying.read more

Tests Available

7 Panel Genes: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
Next Generation Sequencing
$1,290
Test Code: 5244
Deletion / Duplication
$990
Test Code: 5245
NGS/Del Dup Comprehensive
$2,130
Test Code: 5246

Test Details

Technical Information
Panel Genes: 
EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
Disease Groups: 
Hearing Disorders
Skin, Tooth, Nail and Hair Disorders
Billing
Price: 
$1,290
CPT Codes: 
81404 x 1
81479 x 6
Ordering
SKU:
5244
Turnaround Time: 
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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