About GTR
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.
Submitting Information to GTR
Files Available for Download
- List of files
- Field Definitions pdf | Word
Molecular Resources
- ClinVar
- Information about sequence variation and its relationship to human health, NIH.
- Genetics & Medicine
- NCBI's molecular medicine databases and tools, NIH. See tips.
Clinical Resources
- GeneReviews
- Genetic diagnosis, management and counseling, University of Washington. See NCBI's Advanced Search.
- MedGen
- Medical genetics conditions, clinical features, practice guidelines, hierarchies and more, NIH.
- OMIM
- Online Mendelian Inheritance in Man, Johns Hopkins University.
- Orphanet
- Rare diseases and orphan drugs, European consortium.
- NHGRI Talking Glossary
- Genetic terms, images and animation, NIH.
Locate a Genetics Professional
- ACMG Genetics Clinics Database
- American College of Medical Genetics and Genomics database, with map-based views.
- NSGC Directory
- National Society of Genetic Counselors directory.
- NCI Cancer Genetics Services Directory
- National Cancer Institute directory of professionals who provide cancer genetics services.
- ABMG Directory
- American Board of Medical Genetics directory of board-certified geneticists.
- ABGC Directory
- American Board of Genetic Counselors directory of board-certified genetic counselors.
Consumer Resources
- Genetics Home Reference
- Consumer-friendly information about genetic variation and human health, NIH.
- Office of Rare Diseases Research
- Rare diseases information for patients, families, healthcare providers, researchers, educators and students, NIH.
- Genetic Alliance
- Nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness.