About GTR
Welcome to the Beta version of the Genetic Testing Registry. This resource is still under construction, but is available for test use. We welcome your feedback using the Contact GTR form.
The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease.
Files Available for Download
- List of files
- Field Definitions pdf | Word
Clinical Resources
- GeneReviews
- 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.
- OMIM®
- Online Mendelian Inheritance in Man: An Online Catalog of Human Genes and Genetic Disorders, Johns Hopkins University.
- Orphanet
- A reference portal for information on rare diseases and orphan drugs, led by a European consortium.
- NHGRI Talking Glossary of Genetic Terms
- Description of genetic terms and concepts by experts with images, animation and links.
- GeneTests - About Genetic Services
- General information about genetic testing, consultation, ordering and interpretation.
- GeneTests - Other Internet Resources
- A compendium of genetic databases, clinical tools, disease-specific information, and position statements about direct-to-consumer genetic testing.
Locate a Genetics Professional
Consumer Resources
- Genetics Home References (GHR)
- provides consumer-friendly information about the effects of genetic variations on human health.
- Office of Rare Diseases Research (ORDR)
- answers questions about rare diseases and the activities of the ORDR for patients, their families, healthcare providers, researcher, educators, students, and anyone with concern for and interest in rare diseases.