Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015.  We will resume our normal schedule on Tuesday, September 8, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

JAK3 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
JAK3
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis
  • Differential diagnosis from other types of SCID
  • Diagnosis of atypical mild JAK3 deficiency
  • Carrier testing in siblings or other relatives
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD Codes:
  • 279.2: Combined immunity deficiency
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Candotti, F, et al, 1997, Structural and functional basis for JAK3-deficient severe combined immunodeficiency, Blood 90:3996-4003
  2. Notarangelo L, et al, 2001, Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency, Hum Mutation 18:255-263

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