Hyper‑IgM Syndrome (HIGM): (CD40 [TNFRSF5] for HIGM3) (Known Mutation)

Casandra

Casandra Test Code LC13601Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 252670CPT Code 81479

Hyper‑IgM Syndrome (HIGM): (CD40 [TNFRSF5] for HIGM3) (Known Mutation)

Clinical Use

Use

This test is intended for use when a specific known mutation in the CD40 (TNFRSF5) gene associated with Hyper‑IgM Syndrome type 3 has already been identified and documented by the ordering physician. It offers targeted sequencing of the coding region and flanking sequences to confirm or rule out the presence of that known familial mutation.

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, the ordering provider should instead order test 252432. Test orders must include an attestation that the provider has obtained the patient’s informed consent for genetic testing. For family tests (i.e., known mutations), submit the result report of the index case (first patient tested in the family) if that test was not performed at LabCorp; subsequent family members are tested only for the specific mutation found in the index case.

Limitations

This test assesses only the specified known mutation in CD40 (TNFRSF5) and does not evaluate other possible mutations or regions; if the mutation cannot be documented, this test is not appropriate and a broader sequencing test (e.g., test 252432) should be ordered.

Test Details