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
Not provided.
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
ADA
Gene
LOINC Codes
- 41103-3 - Gene XXX Mut Anl Bld/T
- 41103-3 - Gene XXX Mut Anl Bld/T
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
Other tests from different labs that may be relevant