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.

RAG1/RAG2 Gene Sequencing

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RAG1, RAG2
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:
Capillary Sequencing Reflex to Exon Array

ORDERING

Test Code:
147
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x2
New York Approved:
No
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. Schwarz K et al, 1996, Science 274:97, RAG mutations in human B-cell negative SCID
  2. Schuetz, C. et al, 2008, NEJM 358: 2030: An immunodeficiency disease with RAG mutations and granulomas. New Eng. J. Med. 358: 2030-2038, 2008
  3. Noordzij J et al., 2001, Blood 100:2145, The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins
  4. Corneo B, et al, 2001, Blood 97:2772, Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase…either T-B-severe combined immune deficiency or Omenn syndrome
  5. Villa A et al., 2001, Blood 97:8, V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

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