Severe Combined Immunodeficiency (SCID): Three-gene Profile (IL7R, CD3D, CD3E) (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of SCID; detect carriers; allow early diagnosis in family members
Special Instructions
Orders for this test require attestation of informed consent for genetic testing by the provider. In familial cases with known mutations, the result report of the index case should be submitted if tested outside LabCorp, as other family members will be examined for the specific mutation identified in the index case.
Limitations
The test method is not reliable for detecting mosaic variants, large deletions, duplications, inversions, or deep intronic variants. There may be issues with allele-dropout and the inability to determine the exact number of T/A or microsatellite repeats. It cannot establish if two heterozygous variants are on the same or different chromosome copies. The performance characteristics were developed by Labcorp, and the test has not been FDA-cleared or approved.
Methodology
NGS
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
Other tests from different labs that may be relevant