U.S. flag

An official website of the United States government

GTR Home > Tests > Familial Variant Targeted Sequencing

Interpretation

Sample Negative Report

Help

Not provided

Sample Positive Report

Help

Not provided

Variants Of Unknown Significance (VUS) Policy And Interpretation

What is the protocol for interpreting a variation as a VUS? Help
VUS and novel variants will be interpreted by trained variant analysis team member and a lab director using the current ACMG variant classification criteria.
What is the laboratory's policy on reporting novel variations? Help
Unusual or clinically significant novel variants will be communicated to the ordering provider via telephone call or email communication.
Are family members with defined clinical status recruited to assess significance of VUS without charge?Help
No
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes, No systemic re-evaluation of previously reported variants/findings are currently performed. However, if the same variant/finding is identified in another patient and current assessment results in change in variant classification/interpretation, then the laboratory will recontact the ordering provider and issue an updated report.

Research

Is research allowed on the sample after clinical testing is complete?Help
Not provided

Clinical resources

Practice guidelines

  • ACMG, 2016
    Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
  • ASHG/ACMG, 2015
    Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
  • ACMG, 2015
    Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics.
  • ACMG, 2015
    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.
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.