Severe Combined Immunodeficiency (SCID): IL7R (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, large duplications, inversions, or other rearrangements. It may also be affected by allele-dropout, may not determine the exact numbers of T/A or microsatellite repeats, and does not conclude whether two heterozygous variants are on the same or different chromosome copies.
Methodology
NGS (Targeted)
Biomarkers
IL7R
Gene
LOINC Codes
- 41103-3 - Gene XXX Mut Anl Bld/T
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.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | Samples may be stored for brief periods at 4°C. |
Other tests from different labs that may be relevant