Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1 (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of SCID; detect carriers; allow early diagnosis in family members
Special Instructions
In cases where a known mutation can be documented, the physician may prefer to order test 252701. Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. For family tests involving known mutations, submit the result report of the first patient tested in the family, if not performed at a LabCorp facility.
Limitations
This test does not reliably detect mosaic variants, large deletions, duplications, inversions, other rearrangements, or deep intronic variants. There may be issues with allele-dropout, inability to determine exact numbers of T/A or microsatellite repeats, and no conclusion if two heterozygous variants are present on the same or different chromosome copies. This method was developed and its performance characteristics determined by Labcorp; 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