|BAP1 Gene Sequencing||
Analysis of the entire coding region: Sequence analysis
Polymerase chain reaction (PCR)
|Container Type||Container Size||Specimen Volume|
Purple tube (EDTA)
|4 mL||4 mL- 8 mL|
Room temperature - 24 hour(s)
Refrigerated - 72 hour(s)
- Do not freeze
- Do not centrifuge
Reasons for Rejection
- Frozen specimen
- Clotted specimen
- Centrifuged specimen
- Wrong collection tube
- Delayed or improper handling
Please click on the Lab Form Link in the Forms Section to print and complete the Genetic Test Requisition Form. Submission of completed Genetic Test Requisition Form is required, and submission of informed consent form is recommended but not required.
This test is a full gene sequencing of the BAP1 gene intended for germline testing of patients and family members suspected of having BAP1 Tumor Predisposition Syndrome, which is inherited in autosomal dominant manner. Somatic testing on tumor tissue (or other tissues) is NOT performed by this testing.
Individuals who have a pathogenic variant (mutation) in the BAP1 gene are predisposed to the development of melanocytic skin lesions, melanomas, and mesotheliomas. While the specific spectrum and frequency of tumor associated with germline BAP1 mutations is currently not known, there are common tumor types described in the cases reported in the literature. Most frequently, BAP1 mutations have been associated with epithelioid melanocytic tumors and melanomas. Multiple individuals have been described with mesotheliomas including both peritoneal and pleural tumors. Melanomas associated with BAP1 mutations are typically cutaneous or uveal.
Targeted mutation analysis for this gene is available for family members when familial mutation is known (see Test Code: FMLIS).