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HelpTest Code BAP1Z BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies
Ordering Guidance
For a comprehensive hereditary renal cancer gene panel that includes testing for BAP1, consider RENCP / Hereditary Renal Cancer Panel, Varies.
Testing for the BAP1 gene as part of a customized panel is available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for this gene. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Inherited Cancer Syndromes Patient Information Sheet (T519)
3. If not ordering electronically, complete, print, and send a Oncology Test Request (T729) with the specimen.
Useful For
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
Method Name
Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
Reporting Name
BAP1 Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(7) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Pilarski R, Carlo M, Cebulla C, Abdel-Rahman M: BAP1 tumor predisposition syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2016. Updated March 24, 2022. Accessed November 8, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK390611/
2. Walpole S, Pritchard AL, Cebulla CM, et al: Comprehensive study of the clinical phenotype of germline BAP1 variant-carrying families worldwide. J Natl Cancer Inst. 2018 Dec 1; 110(12):1328-1341. doi: 10.1093/jnci/djy171
3. Star P, Goodwin A, Kapoor R, et al: Germline BAP1-positive patients: the dilemmas of cancer surveillance and a proposed interdisciplinary consensus monitoring strategy. Eur J Cancer. 2018 Mar;92:48-53. doi: 10.1016/j.ejca.2017.12.022
4. Carbone M, Ferris LK, Baumann F, et al: BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med. 2012 Aug 30;10:179. doi: 10.1186/1479-5876-10-179
5. Battaglia A: The importance of multidisciplinary approach in early detection of BAP1 tumor predisposition syndrome: Clinical management and risk assessment. Clin Med Insights Oncol. 2014 Apr 28;8:37-47. doi: 10.4137/CMO.S15239
6. Rai K, Pilarski R, Cebulla CM, Abdel-Rahman MH: Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. Clin Genet. 2016 Mar;89(3):285-294. doi: 10.1111/cge.12630
7. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424. doi: 10.1038/gim.2015.30
Day(s) Performed
Varies
Report Available
21 to 28 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81479
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| BAP1Z | BAP1 Full Gene Analysis | 101381-2 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614623 | Test Description | 62364-5 |
| 614624 | Specimen | 31208-2 |
| 614625 | Source | 31208-2 |
| 614626 | Result Summary | 50397-9 |
| 614627 | Result | 82939-0 |
| 614628 | Interpretation | 69047-9 |
| 614629 | Resources | 99622-3 |
| 614630 | Additional Information | 48767-8 |
| 614631 | Method | 85069-3 |
| 614632 | Genes Analyzed | 48018-6 |
| 614633 | Disclaimer | 62364-5 |
| 614634 | Released By | 18771-6 |