How to use GTR's web site

This describes how to use the GTR to find tests and other genetic information. The content of this site is designed to assist health care providers and researchers navigating the landscape of genetic tests. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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.

Submissions:

This page is focussed on how to find information, not how to submit it. Go here for information about how to submit a description of your tests to GTR.

Note: These pages are under construction and are currently incomplete.

Table of Contents

  1. Quick start
    1. How to find tests specific to a condition or drug response
    2. How to find information about a laboratory
    3. How to find a GeneReviews record
    4. How to set preferences using MyNCBI
  2. Detailed instructions about how to use GTR's web site
    1. How to find data
      1. Common use cases
      2. How to find all registered labs and tests
    2. How to filter and interpret results
  3. Information about GTR's data sources

Find tests specific to a condition or drug response

  • Query for a test by clicking on the Tests tab on the home page or by selecting 'Tests'  from the pull-down menu to the left of the Search button on any other page ,
  • Start typing the name of the condition or drug.
  • If you see the name of the disorder in which you are interested appear under the query bar, click on it, otherwise click on Search
    • If you used Search, the result page will probably list multiple disorders in the left column. Click on the one you want
  • If there are multiple tests listed for the condition in which you are interested, you can focus on those of most interest to you by selecting from filter options in the left column, such as method used in the test, certifications of the offerer, and location of the laboratory.

Find a laboratory

  • Query for a laboratory by clicking on the Labs tab on the home page or by selecting 'Labs'  from the pull-down menu to the left of the Search button on any other page
  • You can query on any of the following: name of tests, conditions, genes, proteins, laboratories, staff, or services.
  • Start typing your query
  • If you see the value in which you are interested appear under the query bar, click on it, otherwise click on Search.
  • If there are multiple laboratories listed in the result set, you can focus on those of most interest to you by selecting from filter options in the left column, such as certifications, special services, and location of the laboratory.

Find a GeneReviews record

GeneReviews are expert-authored, peer-reviewed disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. A full description of the resource and a complete listing of individual GeneReview titles can be found here on NCBI's Bookshelf.

  • Query for a GeneReview by clicking on the GeneReviews tab on the GTR home page to take advantage of GTR’s autocomplete dictionary, or type any desired term and click on Search.
  • Query for a GeneReview within NCBI’s Bookshelf by clicking on the GeneReviews link on the home page in the Clinical Resources section. This enables you to use the Limits, Advanced query, and Save search functions under the Bookshelf search bar.
  • Find a specific condition or test, and link to a context-specific GeneReview from the Reviews section in the discovery panel located on the right side of the condition or test page.
  • Find a specific condition for which a GeneReview exists, read an excerpt, and link to the full text of the GeneReview by section.

Set preferences using MyNCBI

If there are one or more laboratories you prefer to use, you can use MyNCBI to indicate they are your preferred laboratories. This can help you to quickly identify when your preferred laboratories offer tests of interest to you.

  • Find the laboratory as described above.
  • If you are not logged into MyNCBI, login or establish a login by clicking on the Go to MyNCBI button in the General Information section.
  • When you return to the page, click on Add to preferred labs.
  • Subsequently, when you perform queries that return results from multiple laboratories, a new filter option will appear, Show tests from selected labs. This option will allow you to tailor your view of preferred labs and their available tests.
  • The MyNCBI help document provides more information about the many features enabled by MyNCBI and login procedures.

Detailed instructions about how to use GTR's web site

Instructions about how to use the Genetic Testing Registry's web site are provided in several formats. We invite you to try the following:

How to find data

Common use cases

Task Instructions
Query all content simultaneously On the home page, select the All GTR tab and enter your query. You may either press enter, select a value from the term list provided, or click on Search All GTR. On any result page, enter your query in the search bar, select All GTR from the menu to its right, and execute your search.
Find labs that offer a service Search for laboratory-specific content by submitting your query under the Labs choice. The following are some of the terms that are supported:  Chromosomal Microarray (CMA), Custom Balanced Chromosome Rearrangement Studies, DNA banking, FISH-Interphase Panels, Marker Chromosome Identification, Mutation Confirmation, RNA banking, Uniparental Disomy (UPD) Testing
Search on a word fragment Start typing your query, and notice the terms underneath the query box that contain what you have entered. The list will be refined with each character you enter. Click on the term below that represents what you want. NOTE: If you click on Search rather than one of the terms that appears below when you have entered a word fragment, you may not get a result. The GTR supports searching word fragments only that match the beginning of a word.

Find all registered labs and tests

  • Click here to find all laboratories that have registered in GTR and all registered tests. The search result delivers laboratories that have migrated from GeneTests as well as new labs that have not participated in GeneTests. The result delivers accessioned tests that meet at least the minimal requirements for registration in GTR. This includes tests that have been migrated from GeneTests in addition to new tests and new content such as pharmacogenetic tests.
  • If you click on the Laboratories result, you can then apply filters as well as access the searchable test menu and other details of these registered labs.
  • If you click on the Tests result, you can then apply filters as well as access the details of these registered tests.
  • Note that some registered labs may not have any registered tests. Labs may be in the process of submitting information to GTR, or may have services (such as whole genome sequencing) that are not yet in scope as fully registered tests. Therefore, the number of labs in this result may exceed the number of labs in the result you see after clicking on the Tests hyperlink.

How to filter and interpret results

Filtering of GTR search results is described in the GTR Fact sheet and the YouTube video Locate a Test in Under Three Minutes.

Write to the Help Desk

Last updated: 2012-08-24T16:54:32-04:00