GTR Test Accession:
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GTR000530437.2
Last updated in GTR: 2017-05-08
View version history
GTR000530437.2, last updated: 2017-05-08
GTR000530437.1, last updated: 2016-04-27
Last annual review date for the lab: 2023-06-21
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At a Glance
Test purpose:
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Diagnosis;
Mutation Confirmation;
Predictive; ...
Conditions (4):
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BAP1-related tumor predisposition syndrome; Melanoma, uveal, susceptibility to, 1; Melanoma, uveal, susceptibility to, 2; ...
Genes (1):
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BAP1 (3p21.1)
Methods (3):
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Molecular Genetics - Deletion/duplication analysis: Microarray; ...
Target population: Help
Germline BAP1 mutations are associated with a predisposition to uveal …
Clinical validity:
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Not provided
Clinical utility:
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Not provided
Ordering Information
Offered by:
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Test short name:
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BAP1
Specimen Source:
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- Isolated DNA
- Peripheral (whole) blood
- Saliva
- View specimen requirements
Who can order: Help
- Genetic Counselor
- Health Care Provider
- In-State Patients
- Licensed Physician
- Nurse Practitioner
- Out-of-State Patients
- Physician Assistant
- Public Health Mandate
- Registered Nurse
Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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Submit test-specific paperwork with sample of blood. See specific sample requirements and shipping information found on our website.
Order URL
Order URL
Test service:
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Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service:
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Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Custom mutation-specific/Carrier testing
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Based on applicable state law
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code,
Lab contact for this test,
Test strategy
Conditions
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Total conditions: 4
Condition/Phenotype | Identifier |
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Test Targets
Genes
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Total genes: 1
Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
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Methodology
Total methods: 3
Method Category
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Test method
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Instrument
Deletion/duplication analysis
Microarray
Other
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500XL
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500XL
Clinical Information
Test purpose:
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Diagnosis;
Mutation Confirmation;
Predictive;
Screening
Target population:
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Germline BAP1 mutations are associated with a predisposition to uveal melanoma and malignant mesothelioma. Other cancer
risks that may be associated with a BAP1 germline mutation include cutaneous melanoma, atypical melanocytic tumors, renal and lung cancers.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Our variant classification system which is based on the American College of Medical Genetics and Genomics guidelines (Genet Med. 2015 May;17(5):405-24). This includes evaluating the variant using in gene-specific mutation databases, ExAC, dbSNP, and 1,000 genomes, and software (SIFT, PolyPhen).
Our variant classification system which is based on the American College of Medical Genetics and Genomics guidelines (Genet Med. 2015 May;17(5):405-24). This includes evaluating the variant using in gene-specific mutation databases, ExAC, dbSNP, and 1,000 genomes, and software (SIFT, PolyPhen).
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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Yes. Free testing for VUS in family members is offered on a case by case basis; information will be collected by the lab to see which family members are available and if their results will help assess for the significance of the variant.
Yes. Free testing for VUS in family members is offered on a case by case basis; information will be collected by the lab to see which family members are available and if their results will help assess for the significance of the variant.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Yes. Ordering physician will be notified by mail or email with updated information for variant.
Yes. Ordering physician will be notified by mail or email with updated information for variant.
Recommended fields not provided:
Clinical validity,
Clinical utility,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Platform:
Agilent SurePrint G3 Human CGH Microarray Kit, 2x400K
Availability:
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Tests performed
Entire test performed in-house
Entire test performed in-house
Analytical Validity:
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Unknown, as reports are limited for genetic testing of identified cases of BAP1 tumor predisposition syndrome.
Assay limitations:
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The current assay can not detect small levels of mosaicism, exonic deletions or duplciations, and deep intronic mutations that can lead to aberrant splicing.
Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Intra-Laboratory
Yes
Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations
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SIFT, PolyPhen, etc
Laboratory's policy on reporting novel variations Help
Novel variations will be reported with added interpretation based on variant type and in the context of known mutations for the specific gene.
SIFT, PolyPhen, etc
Laboratory's policy on reporting novel variations Help
Novel variations will be reported with added interpretation based on variant type and in the context of known mutations for the specific gene.
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
Citations for Analytical validity,
PT Provider,
Description of PT method,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
Additional Information
Clinical resources:
Molecular resources:
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
with specific questions about a genetic test should contact a health care provider or a genetics professional.