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 to GTR
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, University of Washington.
- 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.
Locate a Genetics Professional
- ACMG-Clinic Services Search
- American College of Medical Genetics database of Genetics Clinics.
- GeneTests - Clinic Directory
- A voluntary listing of US and international genetics clinics providing genetic evaluation and genetic counseling, University of Washington.
- NSGC Find a Genetic Counselor Directory
- National Society of Genetic Counselors directory of genetic counselors.
- NCI - Cancer Genetics Services Directory
- NIH National Cancer Institute list of professionals who provide services related to cancer genetics.
- ABMG Board-Certified Geneticist Directory
- American Board of Medical Genetics list of board-certified geneticists.
- ABGC Board-Certified Genetic Counselor Directory
- American Board of Genetic Counselors directory of board-certified genetic counselors.
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.