Severe Combined Immunodeficiency (SCID): ZAP70 (Known Mutation)
Use
This test is intended for confirmation when a mutation in ZAP70 associated with severe combined immunodeficiency (SCID) is already known and documented by the ordering physician, allowing targeted testing of that known mutation to provide a rapid and specific molecular diagnosis.
Special Instructions
This option is available only when the mutation is known and documented. If the mutation is not documented, order test 252489 (SCID: ZAP70 Full Gene Sequencing). Providers must include an attestation of the patient's informed consent for genetic testing, and for family member testing, submit the index case’s result report if not performed at LabCorp before testing relatives for the specific mutation.
Limitations
Not provided.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 41103-3
- 41103-3
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided