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Genetic Testing Registry Launched

The National Institutes of Health (NIH) Director, Francis S. Collins, M.D., Ph.D., unveiled the Genetic Testing Registry (GTR) today at NIH’s observance of international Rare Disease Day.  The GTR, 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 genetic 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.  To view video tutorials on how to use the GTR, to go to:

The GTR staff appreciates the comments it received from interested stakeholders during GTR’s development and welcomes additional feedback as you become familiar with the Registry.  To submit comments and questions, please use

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