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
Physicians must attest that they have the patient's informed consent for genetic testing when ordering this test. Documentation of known mutations can direct physicians to consider ordering a different test (252723). For family tests involving known mutations, submit results of the index case if tested outside LabCorp facilities. Overnight shipment at room temperature is required to maintain specimen integrity.
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
LOINC Codes
- 41103-3
- 41103-3
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