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Test Code
5246
Test Name
Waardenburg Syndrome NGS Panel
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Alternate Names
WS
Description

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. WS type 1 and 2 are clinically overlapping, however, dystopia canthorum is an additional finding in WS type 1. Patients with WS type 3 have dystopia canthorum and abnormalities of the arms and hands. WS type 4 is associated with Hirschprung disease.

The Waardenburg syndrome NGS panel consists of seven genes: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 and TYR.

Gene

Disorder

MIM

Inheritance

EDN3

Waardenburg syndrome, type 4B (WS4B)

613265

AD /AR

EDNRB

Waardenburg syndrome, type 4A (WS4A)

277580

AD /AR

MITF

Waardenburg syndrome, type 2A (WS2A)

Waardenburg syndrome/ocular albinism, digenic

193510

103470

AD

AD

PAX3

Waardenburg syndrome, type 1 (WS1)

Waardenburg syndrome, type 3 (WS3)

193500

148820

AD

AD /AR

SNAI2

Waardenburg syndrome, type 2D (WS2D)

608890

AR

SOX10

Waardenburg syndrome, type 4A (WS4C)

Waardenburg syndrome, type 2E, with or without

neurologic involvement (WS2E)

613266

611584

AD

AD

TYR

Waardenburg syndrome/ocular albinism, digenic

103470

AD
Testing Schedule
Monday-Friday
Genes
EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
Disease Group
Hearing Disorders, Skin
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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