Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG2 (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of SCID; detect carriers; allow early diagnosis in family members
Special Instructions
Not provided.
Limitations
This test may not reliably detect mosaic variants, large deletions, large duplications, inversions, deep intronic variants, or large rearrangements. There is a potential for allele dropout, and it may not allow determination of T/A or microsatellite repeat quantities. Additionally, this test does not discern whether two heterozygous variants are on the same or different chromosome copies. It was developed and performance characteristics determined by Labcorp but has not been FDA-cleared or approved.
Methodology
NGS (Targeted)
Biomarkers
RAG2
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; improper anticoagulant
Other tests from different labs that may be relevant