Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and  will resume our normal work schedule on Saturday, November 29, 2014.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

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

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