Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

RAG1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
RAG1
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. 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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