Severe Combined Immunodeficiency (SCID): ADA (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 252707. Orders must include attestation of informed consent for genetic testing. For family tests, submit the result report of the first patient tested in the family if not performed at LabCorp.
Limitations
This method does not reliably detect mosaic variants, large deletions, duplications, inversions, deep intronic variants, or allele-dropout. It does not determine exact T/A or microsatellite repeats and cannot conclude if heterozygous variants are on the same or different chromosome copies.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 41103-3
- 41103-3
Result Turnaround Time
25-35 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