Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

IL7R Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
IL7R
Disorders:
Clinical Utility:
  • Confirmation of the clinical diagnosis
  • Differential diagnosis from other types of SCID
  • 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. Butte MJ et al, 2007, Clin Immunol 125:159, IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD
  2. Giliani S et al, 2005, Immunol Rev 203:110-126, Interleukin-7 receptor alpha (IL7-Rappha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel mutations
  3. Giliani S et al, 2006, J Pediatr 148:272-4, Omenn Syndrome in an infant with IL7RA gene mutation
  4. Roifman, C et al, 2000, Blood 96:2803-2807, A partial deficiency of interleukin-7Ralpha is sufficient to abrogate T-cell development and cause severe combined immune deficiency
  5. Puel, A et al, 1998, Nat Gen 20: 394-397, Defective IL7R expression in T-B+NK+ severe combined immune deficiency

Back To Top