Interferon-γ Receptor Deficiency: Two-gene Profile (IFNGR1, IFNGR2) (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of IFNGR; guide therapy; detect carriers; allow early diagnosis in family members
Special Instructions
Not provided.
Limitations
This testing method does not accurately detect mosaic variants, large deletions, large duplications, inversions, rearrangements or deep intronic variants. There may be issues with allele dropout, and it may not determine the exact numbers of T/A or microsatellite repeats, nor can it confirm if two heterozygous variants occur on the same or different chromosome copies. It has been developed by Labcorp, with performance characteristics determined internally, and it is not cleared or approved by the FDA.
Methodology
NGS (Targeted)
Biomarkers
IFNGR1, IFNGR2
Gene
LOINC Codes
- 41103-3 - Gene XXX Mut Anl Bld/T
- 41103-3 - Gene XXX Mut Anl Bld/T
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; use of improper anticoagulant
Other tests from different labs that may be relevant