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
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. In cases in which a known mutation can be documented, the physician may prefer to order test 252740. For family tests, submit the result report of the first patient tested in the family (index case), if not performed at LabCorp.
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
LOINC Codes
- 41058-9
- 41058-9
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