Hyper-IgM Syndrome (HIGM): (CD40 [TNFRSF5] for HIGM3) (Full Gene Sequencing)

Casandra

Casandra Test Code LC54097Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 252432CPT Code 81479

Hyper-IgM Syndrome (HIGM): (CD40 [TNFRSF5] for HIGM3) (Full Gene Sequencing)

Clinical Use

Use

Confirm a clinical diagnosis of HIGM; detect carriers; allow early diagnosis in family members, guiding prophylactic measures

Special Instructions

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In the case of family tests (i.e., known mutations), please submit the result report of the first patient tested in the family (the index case), if not performed at a LabCorp facility. Other family members are subsequently tested for the specific mutation found in the first patient tested.

Limitations

This method does not reliably detect mosaic variants; large deletions; large duplications, inversions or other rearrangements; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies. This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Test Details