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DCLRE1C Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
DCLRE1C (ARTEMIS)
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis, especially to identify the associated radiosensitivity.
  • Selection of appropriate treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
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. Li L et al., 2002, A founder mutation in Artemis, ans SNM1-like protein, causes SCID in Athabascanspeaking Native Americans, J Immunol 168:6323
  2. Ege, M. et al., Omenn syndrome due to ARTEMIS mutations. Blood 105: 4179-4186, 2005.
  3. Moshous, D. et al., Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell 105: 177-186, 2001.

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