Interferon-γ Receptor Deficiency: IFNGR2 (Known Mutation)
Use
This test is used when a mutation in IFNGR2 is already documented in the ordering physician’s knowledge (known mutation). The test enables confirmation in additional family members by only testing for the specific mutation previously identified in a relative, facilitating targeted testing in familial contexts.
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, order test 252522. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In cases of family testing, the result report of the first patient tested in the family (index case) should be submitted if not performed at a LabCorp facility; subsequently, other family members are tested for the specific mutation found in the index case.
Limitations
Not provided.
Methodology
Sanger
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