BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies
Use
Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS). Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks. Identifying genetic variants associated with increased risk for BAP1-TPDS, allowing for predictive testing and appropriate screening of at-risk family members.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants. In rare cases, false-negative or false-positive results may occur. There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis due to technical limitations, including high GC content and repetitive sequences. This test does not detect low levels of mosaicism or differentiate between somatic and germline variants. Reclassification of variants is not systematic, and updates rely on healthcare providers to inquire about changes.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 101381-2 - BAP1 gene Del+Dup + Full Mut Anl Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD); acceptable green top (Sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |