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Genetic Testing and Treatment
Explore this section to learn more about genetic testing, treatments for rare diseases, and tools for finding genetic specialists.
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.
A directory of clinical laboratories in Europe that perform genetic testing or offer tests for the diagnosis of rare diseases.Back to top
A searchable database of United States genetics clinics.
A searchable directory of US and international genetic counseling services.
A database of geneticists who are members of ASHG, some of whom may be researchers that do not provide medical care. This database includes individuals who live outside of the United States.Back to top
Promotes the development of products that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions.
Information about Food and Drug Administration (FDA) regulation of biological products.
Information about Food and Drug Administration (FDA) regulation of medical devices and radiologic health and devices that benefit patients with a rare disease that affects fewer than 4,000 individuals in the United States per year.Back to top
The American College of Medical Genetics provides ACT sheets and Algorithms for healthcare professionals that outline the steps involved in the follow-up of an infant who has screened positive on a newborn screening test.
The nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
Provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers, and the government.
Provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
Factsheets written specifically for families that have received a diagnosis as a result of newborn screening.Back to top