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

Not provided.

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