Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLRE1C [Artemis]) (Full Gene Sequencing)

Casandra

Casandra Test Code LC22314Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 252516CPT Codes 81405, 81479

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLRE1C [Artemis]) (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 of informed consent for genetic testing. Submit the result report of the first patient tested in the case of family tests (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.

Limitations

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

Test Details