Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): DCLRE1C (Artemis) for RS-SCID or SCIDA (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of SCID; detect carriers; allow early diagnosis in family members
Special Instructions
Not provided.
Limitations
The methodology does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements. Deep intronic variants may not be detected, and allele-dropout can affect results. The assay cannot determine the exact numbers of T/A or microsatellite repeats, nor can it ascertain whether two heterozygous variants are on the same or different chromosome copies. The test's performance characteristics were determined by Labcorp but it has not been cleared or approved by the FDA.
Methodology
NGS (Targeted)
Biomarkers
No genes
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