Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1, RAG2, DCLRE1C (Artemis) (Full Gene Sequencing)

Casandra

Casandra Test Code LC46900Version 1 (DRAFT)

Performing Lab

Lab LabcorpLab Test ID 252503CPT Code 81479

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1, RAG2, 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 that the provider has the patient's informed consent for genetic testing. In the case of family tests (ie, 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.

Test Details