Casandra
Casandra Test Code LC03167Version 1 (DRAFT)
Performing Lab
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): DCLRE1C (Artemis) for RS‑SCID or SCIDA (Known Mutation)
Clinical Use
Order TestUse
This test is intended to confirm a previously identified mutation in the DCLRE1C gene (Artemis) associated with recombination‑sensitive severe combined immunodeficiency (RS‑SCID) or SCIDA, including Omenn syndrome, in individuals with a documented family mutation.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
NGS
Biomarkers
DCLRE1C
GeneMutation
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
LOINC Codes
Order Codes
- 41103-3 - Gene XXX Mut Anl Bld/T
Result Codes
- 41103-3 - Gene XXX Mut Anl Bld/T
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
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