Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Three-gene Profile (IL2RG, ADA, IL7R) (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of SCID; detect carriers; allow early diagnosis in family members
Special Instructions
Not provided.
Limitations
The sequencing method used does not reliably detect mosaic variants, large deletions, duplications, inversions, other rearrangements, or deep intronic variants. It may be affected by allele dropout and may not determine the exact numbers of T/A or microsatellite repeats. The test does not conclude whether two heterozygous variants are present on the same or different chromosome copies.
Methodology
NGS (Targeted)
Biomarkers
IL2RG, ADA, IL7R
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