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

Casandra

Casandra Test Code LC02707Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 252513CPT Codes 81405, 81479

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (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 the case of family tests (known mutations), please submit the result report of the first patient tested in the family. Other family members are tested for the specific mutation found in the first patient tested.

Limitations

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

Test Details