How to submit clinical test information in the Interpretation section of the submission form
This page is organized according to the sections you see on the Interpretation tab. You may click on the name of the section below to navigate to that section of this document.
Please note that most sections in the form provide tool tips, accessible by this icon (
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Upload Sample Reports
Sample negative, Sample positive, and Sample VUS reports will display in the Interpretation tab of the test record. GTR staff will review your report for actual or potential identifiers before it becomes public so there may be a delay from the time you upload your report and when you can see it in the public site.
Do not include date of birth, family numbers, sample numbers, medical record numbers, patient name, etc. Format for birth date such as XX/XX/2005 is acceptable but 9/9/1999 will not be accepted as this potentially a real birth date. Most fabricated names are potentially real as well, so please do not include these in your sample reports.
If your laboratory reports typically contain extensive information about variants of uncertain significance, please limit or eliminate these results from the sample report. Submission of more than a few dozen individual level genotypes (e.g., SNPs) can uniquely identify a person with high confidence.
Sample negative report (recommended). Upload a sample report with negative results. Please make sure that all identifiable information (both actual and potential) is absent from the report.
Sample positive report (recommended). Upload a sample report with positive results. Please make sure that all identifiable information (both actual and potential) is absent from the report.
Sample VUS report (optional). Upload a sample report with VUS results. Please make sure that all identifiable information (both actual and potential) is absent from the report.
Variants of Unknown Significance (VUS): Policy and Interpretation
This information will display in the Interpretation tab of the test record.
What is the protocol for interpreting a variation as a VUS? (recommended). Type, or copy and paste from a source you have available, a description of how your lab interprets a variation as a VUS.
What software is used to interpret novel variations? (optional). Type, or copy and paste from a source you have available, the software your lab uses to interpret novel variations. You can include lab-developed software.
What is the laboratory's policy on reporting novel variations? (recommended). Type, or copy and paste from a source you have available, a description of how your lab reports novel variations.
Are family members with defined clinical status recruited to assess significance of VUS without charge? (recommended). Select whether your lab offers testing for a variant of unknown significance to family members free of charge; for example, to affected individuals and/or presumed obligate carriers to help determine clinical significance of a VUS.
Comments about recruiting family members to assess significance of VUS without charge? (recommended). Write an explanation or give information about who would be eligible to testing free of charge and how the lab does it. For example, is the testing offered to affected individuals and/or presumed obligate carriers to help determine clinical significance of a VUS.
Will the lab re-contact the ordering physician if variant interpretation changes? (recommended). Select whether the lab contacts the ordering physician after testing and initial report if a variant interpretation changes.
Comments about the laboratory procedure to re-contact the ordering physician (recommended). Type a description or explanation about how the lab monitors and addresses reinterpretation of genetic tests results over time, after issuing the report. For example, is there a time limit, do you systematically re-evaluate prior interpretations and generate new reports, or does the person ordering the test need to periodically recontact the laboratory to inquire about changes in test interpretation?
Research performed after clinical testing is complete (recommended). Type an explanation or information about any research testing being performed using the submitted sample. For example, research testing is allowed under IRB approved protocols or the patient would have to sign an informed consent for the research protocol. If the protocol is registered in clinicaltials.gov, you can enter that information here. Please note that Quality Control is not considered as research for this question.
Save your work
Don't forget to save your work by clicking the Save & Continue button at the bottom of the page! If you need to interrupt or delay data entry, you can return at a later time and you will be taken to the last tab you saved.
If any required fields or data inconsistencies are detected on this page, an error message will display after you click Save & Continue indicating what the issue is. The field(s) that need attention will be outlined in red. Please correct your data and click "Save & Continue" again.