Epstein Barr Virus (EBV) Susceptibility and Lymphoproliferative Disorders Gene Panel, Varies
Use
This test is useful for providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Epstein-Barr virus (EBV) susceptibility or a heritable predisposition to lymphoproliferative disease. It helps in establishing a diagnosis of a hereditary form of EBV susceptibility or a related disorder, allowing for appropriate management and surveillance for disease features based on the gene or variant involved. It is also useful in identifying variants within genes known to be associated with heritable EBV susceptibility and/or lymphoproliferative disease, allowing for predictive testing of at-risk family members. However, this test is not useful for diagnosing acute/recent EBV infection.
Special Instructions
Patients who have had a previous bone marrow transplant from an allogenic donor should not have testing performed on blood, bone marrow, or saliva as results may reflect donor genome rather than the recipient. For patients with an active hematologic malignancy, testing a skin biopsy or cultured fibroblasts is recommended.
Limitations
Next-generation sequencing may not detect all types of genomic variants, and false-negative or false-positive results may occur. Regions of genes that cannot be effectively evaluated include those with homology, high GC content, and repetitive sequences. This test is validated to detect certain deletions and insertions up to specific sizes, with limitations in detecting larger delins. Balanced structural rearrangements like translocations and inversions may not be detected.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103739-9
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Storage Instructions
Ambient preferred; Refrigerated
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | <24 hours |
| Frozen | 1 year |
