Hyper‑IgM Syndrome (HIGM): (CD40LG [TNFSF5] for HIGM1) (Known Mutation)
Use
This test is designed for confirmation of a known familial or individual mutation in the CD40LG (TNFSF5) gene associated with Hyper‑IgM Syndrome type 1 (HIGM1). It is appropriate when the specific mutation has already been identified and documented by the ordering provider, facilitating cost‑effective and focused genetic testing.
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, order test 252435. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. For family tests, submit the result report of the index case if not performed at LabCorp; subsequent family members are tested for that specific mutation.
Limitations
The test only assesses the specified known mutation in CD40LG; it will not detect other potential mutations. If the mutation cannot be documented, a full gene sequencing test (test 252435) should be ordered instead.
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