Casandra
Casandra Test Code LC70381Version 1 (DRAFT)
Performing Lab
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG2 (Known Mutation)
Clinical Use
Order TestUse
This test option is intended when a known mutation in the RAG2 gene can be documented by the ordering physician. It is used to confirm familial mutations in the context of Severe Combined Immunodeficiency (SCID) including Omenn syndrome, helping in early diagnosis of family members once the index case’s mutation has been identified and reported.
Special Instructions
All coding nucleotides of RAG2 plus flanking intronic regions are covered. Orders must include attestation of informed consent. In family testing, submit the index case's result report if not previously performed at Labcorp. If the mutation is not documented, order test 252472.
Limitations
Not provided.
Test Details
Methodology
NGS
Biomarkers
Targets not provided.
LOINC Codes
Order Codes
- 41103-3
Result Codes
- 41103-3
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided