Hyper‑IgM Syndrome (HIGM): (CD40LG [TNFSF5] for HIGM1) (Known Mutation)

Casandra

Casandra Test Code LC32027Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 252673CPT Code 81403

Hyper‑IgM Syndrome (HIGM): (CD40LG [TNFSF5] for HIGM1) (Known Mutation)

Clinical Use

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.

Test Details