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Test ID BAP1Z BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies


Ordering Guidance


For a comprehensive hereditary renal cancer gene panel, consider RENCP / Hereditary Renal Cancer Panel, Varies, which tests 19 genes including BAP1.

 

Testing for 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 Mutation, Targeted Testing, Varies.



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. Do not aliquot.

2. Send specimen in original tube.

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

Evaluation of 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 one gene associated with BAP1-tumor predisposition syndrome: BAP1. See Method Description for additional details.

 

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for BAP1-tumor predisposition syndrome (BAP1-TPDS).

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

BAP1 Full Gene Analysis

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

3 to 4 weeks

Performing 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. This test 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 In Process

 

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

NY State Approved

Yes