myRisk Single Site Analysis
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000603547.1
NYS CLEP
CANCERINHERITED DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2022-11-18
Last annual review date for the lab: 2023-12-27 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Polymerase proofreading-related adenomatous polyposis; AXIN2-related attenuated familial adenomatous polyposis; BAP1-related tumor predisposition syndrome; ...
APC (5q22.2), ATM (11q22.3), AXIN2 (17q24.1), BAP1 (3p21.1), BARD1 (2q35), ...
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis; Microarray; Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
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Ordering Information
Offered by: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Licensure is state dependant. All healthcare providers who are licenced to order genetic testing in their state may order this testing.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 32
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 45
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 5
Method Category Help
Test method Help
Instrument *
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Targeted variant analysis
Microarray
Targeted variant analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Targeted variant analysis
Quantitative PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Classifications are determined by committee decision.

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes. Amended reports are sent to ordering/recieving provider at the time of reclassification.
Recommended fields not provided:
Technical Information
Test Procedure: Help
All potential clinically significant variants are independently confirmed by repeated PCR amplification of the indicated gene region(s) and sequencing or deletion/duplication testing, depending on the mutation.
Test Confirmation: Help
All potential clinically significant variants are independently confirmed by repeated PCR amplification of the indicated gene region(s) and sequencing or deletion/duplication testing, depending on the mutation.
Test Comments: Help
Previousy registered in GTR as GTR000570011; Single mutation testing is appropriate for patients who have a family member with a known pathogenic hereditary cancer causing mutation.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical specificity: The incidence of a false report of a genetic variant or mutation resulting from technical error is considered negligible because of independent confirmation of all clinically significant genetic variants (see below). The incidence of a false report of a clinically significant genetic variant or mutation resulting from errors … View more
View citations (2)
Assay limitations: Help
Limitations of method: Unequal allele frequencies may result from certain DNA contexts, including repetitive or low complexity sequences. The presence of pseudogenes or gene conversion may complicate the detection of rare sequencing and copy number variation mutations in certain genes. Due to the potential location and complexity of transposon insertions, … View more
View citations (2)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists

Description of internal test validation method: Help
Blinded internal proficiency testing
VUS:
Software used to interpret novel variations Help
In house developed analytical tools.

Laboratory's policy on reporting novel variations Help
All non-polymophism variations are reported.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
NYS CLEP Approval: Help
Number: 5414
Status: Approved
Additional Information

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.