Severe Combined Immunodeficiency (SCID): IL2RG for XSCID (Known Mutation)
Use
This test is used when a mutation in the IL2RG gene is already known or documented by the ordering physician, often for testing family members of an index case. It is intended to confirm the specific known mutation associated with X-linked severe combined immunodeficiency (X‑SCID).
Special Instructions
This option is available when the mutation is known and can be documented by the ordering physician. Test orders must include attestation that the provider has the patient's informed consent. In family tests, submit the result report of the index case if not performed at a LabCorp facility; subsequently test other family members for that specific mutation. If the mutation cannot be documented, order test 252463.
Limitations
Not provided.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 41103‑3
- 41103‑3
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Not provided.