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Genetic Testing and Treatment

Genetic Testing and Treatment

Explore this section to learn more about genetic testing, treatments for rare diseases, and tools for finding genetic specialists.

Genetic Testing Information

An NIH Fact Sheet on Genetic Testing: How it is Used for Healthcare

GTR: Genetic Testing Registry

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.

Orphanet

A directory of clinical laboratories in Europe that perform genetic testing or offer tests for the diagnosis of rare diseases.

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Locations for Healthcare and Services

American College of Medical Genetics Clinic Database

A searchable database of United States genetics clinics.

National Society of Genetic Counselors Directory

A searchable directory of US and international genetic counseling services.

National Human Genome Research Institute (NHGRI), Information about Genetic Counseling

American Society of Human Genetics Membership Directory

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.

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Orphan Products

Office of Orphan Products Development, FDA

Promotes the development of products that demonstrate promise for the diagnosis and/or treatment of rare diseases or conditions.

FDA Center for Biologics Evaluation and Research (CBER)

Information about Food and Drug Administration (FDA) regulation of biological products.

FDA Center for Devices and Radiological Health (CDRH)/Humanitarian Use Devices

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.

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Newborn Screening

ACT Sheets and Confirmatory Algorithms

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.

Baby's First 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.

Genetic and Newborn Screening Resource Center of the United States (GeNeS-R-US)

Provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers, and the government.

National Newborn Screening and Global Resource Center (NNSGRC)

Provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.

Screening, Technology And Research in Genetics (STAR-G) Project

Factsheets written specifically for families that have received a diagnosis as a result of newborn screening.

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