Severe Combined Immunodeficiency (SCID): IL7R (Full Gene Sequencing)

Casandra

Casandra Test Code LC26510Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 252479CPT Code 81479

Severe Combined Immunodeficiency (SCID): IL7R (Full Gene Sequencing)

Clinical Use

Order Test

Use

Confirm a clinical diagnosis of SCID; detect carriers; allow early diagnosis in family members

Special Instructions

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In cases where a known mutation can be documented, the physician may prefer ordering an alternative test (252710). For family tests involving known mutations, the result report of the first patient tested should be submitted if not performed at a LabCorp facility.

Limitations

This method does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements. It may also be affected by allele-dropout, may not determine the exact numbers of T/A or microsatellite repeats, and does not conclude whether two heterozygous variants are on the same or different chromosome copies.

Test Details