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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:
84311x1, 88271x10, 88291x1
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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