How to submit information in the Default section of the submission form

This page is organized according to the sections you see on the Default parameters tab. You may click on the name of the section below to navigate to that section of this document. If you have questions about a different tab in the lab submission interface, please see Register a new lab.

The Default parameters tab of the lab submission is an optional feature you can use to enter information that is applicable to many of your tests. The information you enter here will automatically populate the respective fields of each new test record submitted manually so that you do not have to enter it for every test (this information will not populate tests submitted via full test excel file). When you subsequently edit individual tests, you can change the information as needed.

How the Default parameters feature works for different submission scenarios

Click 'Add a new test' button on the submission user interface
- Feature enabled, default information will pre-populate new tests
Upload new clinical tests using the minimal fields test submission template file (semi-automatic submission)
- Feature enabled for a subset of fields. Default information will pre-populate new tests for these fields: URL of the lab website with information about how to order this test, How to order, Who can order this test?, Specimen sources, and Contact policy.
Upload new clinical tests using the full test submission template file
- Feature NOT enabled.
Submit new tests via API
- Feature NOT enabled.

Please note that most sections in the form provide tool tips, accessible by the help icon (), that provide hints specific to that box.

Optional: Default Parameters (May be overwritten for specific tests)
Variants of Unknown Significance (VUS): Policy and Interpretation
Upload Sample Reports

Optional: Default Parameters (May be overwritten for specific tests)

Test contact policy (optional for defaults section, recommended for specific tests). Select from the three (3) available choices whether your lab contacts patients directly or only health care professionals. This information will display in the How to order tab of the test record.

Who can order this test (optional). Select all the people who can order the test from your lab. If you want to select multiple people, please hold the control key as you select multiple choices from the menu. To un-select a choice, please hold the control key and un-select the choice. This information will display in the How to order tab of the test record.

How to order (optional for defaults section, recommended for specific tests). Type, or copy and paste from a source you have, information about how people can order your test(s), for example you can provide a brief exlanation about ordering requirements such as required forms. This information will display in the Overview tab and the How to order tab of the test record.

URL to lab website with information about how to order this test (optional for defaults section, recommended for specific tests). Enter the URL to your test-specif page. This link will be active in the public site and GTR users will be able to click on it so it is important you provide it in the correct format: http:// or https:// as appropriate for your website. This information will display in the How to order tab of the test record.

Test-specific laboratory services (optional). Select a test service from the list. If the lab offers a service that is not listed, you can select "Other" and write the service name in the box that pops up. You can enter multiple sets of services by clicking the "Add another test-specific laboratory service" link below the box. Please select each test service only once (you can provide multiple order codes for one service) in the test-specific laboratory services order code field. This information will display in the Overview tab and the How to order tab of the test record.

Test-specific laboratory services order code (optional). Type the order or catalog code for the test service used in the order requisition, if applicable. If multiple codes apply to this service, enter them together in this box separated by commas. This information will display next to the test service in the test record.

Test-specific laboratory services comment (optional). Type a brief explanation about the test service. This information will display next to the test service order code in the test record.

Test-specific laboratory additional services (optional). For the time being the two (2) services in this list are separate from the other test services for internal processing. We are working on merging these lists. In the mean time please select the appropriate service(s) and provide the order code as appropriate. Please select each test service only once (you can provide multiple order codes for one service) in the test-specific laboratory additional services order code field. They will display in the Overview tab and the How to order tab of the test record.

Specimen source(s) (optional for defaults section, recommended for specific tests). Select all specimen sources that apply to most of your tests. If your lab accepts a specimen source not in this list, please select other and type the specimen source in the box that pops up. This information will display in the How to order tab of the test record.

Variants of Unknown Significance (VUS): Policy and Interpretation

What is the protocol for interpreting a variation as a VUS? (optional). Type, or copy and paste from a source you have available, a description of how your lab interprets a variation as a VUS. This information will display in the Interpretation tab of the test record.

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. This information will display in the Interpretation tab of the test record.

What is the laboratory's policy on reporting novel variations? (optional). Type, or copy and paste from a source you have available, a description of how your lab reports novel variations. This information will display in the Interpretation tab of the test record.

Are family members with defined clinical status recruited to assess significance of VUS without charge? (optional). 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. This information will display in the Interpretation tab of the test record.

Will the lab re-contact the ordering physician if variant interpretation changes? (optional). Select whether the lab contacts the ordering physician after testing and initial report if a variant interpretation changes. This information will display in the Interpretation tab of the test record.

Comments about the laboratory procedure to re-contact the ordering physician (optional). 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?

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 (optional for defaults section, recommended for specific tests). 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 (optional for defaults section, recommended for specific tests). 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.

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.