Casandra
Casandra Test Code LC35529Version 1 (DRAFT)
Performing Lab
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1 (Known Mutation)
Clinical Use
Order TestUse
This test is intended for scenarios where a known mutation in RAG1 is documented by the ordering physician, facilitating focused analysis for confirming familial cases of SCID, including Omenn syndrome.
Special Instructions
This option is available when the mutation is known and can be documented by the ordering physician. If not documented, the full gene sequencing test (252470) should be ordered. Orders must include an attestation of informed consent for genetic testing, and for family testing the result report of the index case should be submitted.
Limitations
Not provided.
Test Details
Methodology
NGS
Biomarkers
RAG1
GeneSNV/Indel • Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
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