Genetic Testing Registry Launched

The National Institutes of Health (NIH) recently unveiled its new Genetic Testing Registry (GTR)  at NIH’s observance of Rare Disease Day.

Genetic Testing Registry

The Registry, available at, features a versatile search interface that allows users to search by test, condition, gene, genetic mutation, and laboratory.  It also serves as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific, and literature resources available through the National Library of Medicine at NIH.

The Registry is currently intended for use by clinicians and researchers: phase I focuses on tests for heritable mutations, including pharmacogenomic tests and tests using complex arrays and multiplex panels.  Future phases will incorporate features designed for use by patients and the general public, as well as other types of tests, such as tests for somatic mutations and assays that use whole exome or whole genome sequencing.

A Fact Sheet and a set of FAQs are available; or you may view video tutorials on use of the GTR.

Read the full press release.

Visit the Genetic Testing Registry.

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