Severe Combined Immunodeficiency (SCID): CD3D (Known Mutation)
Use
This test is intended to confirm the presence of a previously identified pathogenic variant in the CD3D gene in individuals with known severe combined immunodeficiency (SCID). It is used for targeted familial testing when the causal mutation has already been documented in an index case.
Special Instructions
This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, test 252482 should be ordered instead. An attestation of patient informed consent for genetic testing must accompany the test order. For family testing (known mutation), submission of the index case’s result report is required if testing was not performed at LabCorp.
Limitations
Not provided.
Methodology
NGS
Biomarkers
LOINC Codes
- 41103-3
- 41103-3
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Not provided.