Interferon-γ Receptor Deficiency: IFNGR2 (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of IFNGR2; guide therapy; detect carriers; allow early diagnosis in family members
Special Instructions
Test orders must include an attestation that the provider has obtained the patient's informed consent for genetic testing. In cases of known mutations, consider ordering test 252730. For family testing, submit the result report of the first patient tested in the family, if the test was not performed at a LabCorp facility. Subsequent family members are tested for the specific mutation found in the first tested patient.
Limitations
This test does not reliably detect mosaic variants, large deletions, large duplications, inversions, other complex rearrangements, or deep intronic variants. The method may be affected by allele dropout and does not determine the exact numbers of T/A or microsatellite repeats. It cannot conclude if two heterozygous variants are on the same or different chromosome copies. Developed by Labcorp, this test has not been cleared or approved by the FDA.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 41103-3
- 41103-3
Result Turnaround Time
28-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
Not provided
Container
Lavender-top (EDTA) tube
Collection Instructions
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant