Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Two-gene Profile (RAG1, 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 method does not reliably detect mosaic variants, large deletions, duplications, inversions, or other rearrangements, nor deep intronic variants. It may be affected by allele-dropout and doesn't allow the determination of exact numbers of T/A or microsatellite repeats. The test does not conclude if two heterozygous variants are on the same or different chromosome copies. The performance characteristics were determined by Labcorp, but the test is not cleared or approved by the Food and Drug Administration.
Methodology
NGS (Targeted)
Biomarkers
RAG1, RAG2
Gene
LOINC Codes
- 41103-3 - Gene XXX Mut Anl Bld/T
- 41103-3 - Gene XXX Mut Anl Bld/T
Result Turnaround Time
50-63 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