BAP1 Sequencing and Deletion/Duplication
Also known as: Inherited Cancer, Common syndrome, Uveal melanoma, BAP1-TPDS, Mesothelioma
Use
This test analyzes single‑nucleotide variants, deletions, and duplications in the BAP1 gene, enabling detection of germline variants that may underlie hereditary cancer syndromes (BAP1 tumor predisposition carcinomas such as mesothelioma, uveal melanoma, renal cell carcinoma). Clinical interpretation of detected variants should be integrated with personal and family history, and variant classification may evolve; negative results do not eliminate risk and may warrant further testing or surveillance.
Special Instructions
Not provided.
Limitations
Technical limitations may include regions of homology, high GC content, or repetitive sequences that may not be effectively evaluated by sequencing or deletion/duplication methods. Variant classification reflects Quest’s understanding at the time of reporting and may change; negative results require interpretation in clinical context with potential reflex testing or counseling.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided