X-linked Lymphoproliferative Disease (XLP): SH2D1A (Full Gene Sequencing)
Use
Confirm a clinical diagnosis of XLP; 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; or deep intronic variants. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or different chromosome copies. This test was developed by LabCorp and has not been cleared or approved by the FDA.
Methodology
NGS (Targeted)
Biomarkers
SH2D1A
Gene
LOINC Codes
- 41058-9 - SH2D1A gene Mut Anl Bld/T
- 41058-9 - SH2D1A 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