Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): DCLRE1C (Artemis) for RS‑SCID or SCIDA (Known Mutation)
Use
This test is intended to confirm a previously identified mutation in the DCLRE1C gene (Artemis) associated with recombination‑sensitive severe combined immunodeficiency (RS‑SCID) or SCIDA, including Omenn syndrome, in individuals with a documented family mutation.
Special Instructions
This test option is available only when the mutation is known and documented by the ordering physician. If the mutation cannot be documented, test 252492 (Full Gene Sequencing) should be ordered instead. Orders must include provider‑attested informed consent for genetic testing. For family testing, the result report of the index case, if not performed at LabCorp, should be submitted; subsequent family members are tested specifically for that mutation.
Limitations
Not provided.
Methodology
NGS
Biomarkers
LOINC Codes
- 41103-3
- 41103-3
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided