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GTR: The Genetic Testing Registry


On February 29, 2012, the National Center for Biotechnology Information (NCBI) announced the release of the Genetic Testing Registry (GTR). The GTR is a resource that provides a "central location for voluntary submission of genetic test information by providers."   The GTR contains information on genetic tests for approximately 2,500 diseases and will replace the GeneTests laboratory listings by 2013.

The GeneTests database, hosted by the NCBI but sponsored by the University of Washington, is a resource long known and used by genetic counselors and other genetic testing and healthcare professionals. The GTR strives to continue GeneTests' service of providing information supplied by gene testing organizations. The GTR, while replacing GeneTests, will not replace GeneReviews, expert-authored reviews on genetic conditions, and in fact includes links to GeneReviews.

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Users can search the entire GTR site using keywords, or can search the GTR by specific categories:

  • Tests - by entering test names, disease names, phenotypes, gene symbols and names, protein names, laboratory names, directors and locations as search terms
  • Conditions/Phenotypes - by entering disease names, traits, drugs, proteins and analytes
  • Genes - by entering gene symbols and names, conditions and phenotypes
  • Labs - by entering lab names, directors, staff members, locations and services, disease names and phenotypes
  • GeneReviews - by entering any keyword

Search results can be narrowed by applying filters selected from the left side of the search results page. The GTR homepage also includes links to a number of other genetic testing resources. Researchers or laboratories who provide genetic testing can also find links and instructions on submitting genetic testing information to the GTR.

The GTR is somewhat of a hybrid resource. It is intended for use mostly by researchers and clinicians. It does contain information that can be used by patients and consumers, but also includes advice to consumers to contact their healthcare providers or genetics professionals with questions about tests.

For more information about the GTR, see the GTR FAQs from the Office of Biotechnology Activities.

Pamela Shaw
Biosciences & Bioinformatics Librarian
email Pamela

The Biosciences & Bioinformatics Blog highlights new tools and news items of interest to the biosciences research community at Northwestern University.

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Updated: September 24, 2023