Test 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 Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a bone marrow transplant, call 800-533-1710.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (Sodium heparin)
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 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days/Refrigerated 30 days
Additional information: Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
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
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the BAP1 gene associated with BAP1-tumor predisposition syndrome (BAP1-TPDS). See Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for BAP1-TPDS.
Special Instructions
Reporting Name
BAP1 Full Gene AnalysisSpecimen Type
VariesSpecimen Minimum Volume
Whole blood: 1 mL; Saliva: See Specimen Required
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Varies |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
21 to 28 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT 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 |