Severe Combined Immunodeficiency (SCID): JAK3 (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of SCID; detect carriers; allow early diagnosis in family members
Special Instructions
Not provided.
Limitations
The method does not reliably detect mosaic variants, large deletions, large duplications, inversions, or other rearrangements, nor does it detect deep intronic variants. The test may be affected by allele-dropout, may not allow determination of the exact numbers of T/A or microsatellite repeats, and does not allow any conclusion as to whether two heterozygous variants are present on the same or different chromosome copies. This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Methodology
NGS (Targeted)
Biomarkers
JAK3
Gene
LOINC Codes
- 47963-4 - JAK3 gene Mut Anl Bld/T
- 47963-4 - JAK3 gene 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
Other tests from different labs that may be relevant