Interferon-γ Receptor Deficiency: IFNGR1 (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of IFNGR1; guide therapy; detect carriers; allow early diagnosis in family members
Special Instructions
Not provided.
Limitations
The method does not reliably detect mosaic variants, large deletions, duplications, inversions, or other rearrangements, and deep intronic variants. It may be affected by allele-dropout and does not determine the exact numbers of T/A or microsatellite repeats. It also cannot conclude if two heterozygous variants are on the same chromosome copy. This test was developed by Labcorp and has not been FDA cleared or approved.
Methodology
NGS
Biomarkers
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.
Other tests from different labs that may be relevant