X-linked Lymphoproliferative Disease (XLP): SH2D1A (Known Mutation)
Use
This test is used when a specific known mutation in the SH2D1A gene — causative of X-linked lymphoproliferative disease (XLP) — has already been identified and documented by the ordering physician. It enables confirmation of that mutation in additional family members (e.g., for carrier or family member testing), streamlining genetic counseling and clinical decision‑making.
Special Instructions
This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, please order test 252535. Test orders must include an attestation that the provider has the patient’s informed consent for genetic testing. In family testing, the result report of the index case must be submitted if not performed at LabCorp; subsequent family members are tested for the specific mutation found in the index case. Additionally, informed consent documentation (form L7832) is required.
Limitations
Not provided.
Methodology
NGS
Biomarkers
LOINC Codes
- 41058-9
- 41058-9
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