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WAS Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
WAS
Disorders:
Clinical Utility:
  • 1. Confirmation of a clinical diagnosis 2. Determination of appropriate treatment
  • 3. Identification of at-risk family members
  • 4. Prenatal diagnosis in at-risk pregnancies
Lab Method:
Exon Array CGH
Clinical Sensitivity:
53%

ORDERING

Test Code:
906
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 279.12: Wiskott-Aldrich syndrome
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Ancliff et al., (2006) Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood. 108(7): 2182-2189.
  2. Imai et al., (2003) WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol. 6:427-436.
  3. Devriendt et al., (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet. 3:313-317.
  4. Jin et al., (2004) Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 104(13): 4010-4019.

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