Resource Links for Health Care Providers

Genetic Counseling and Genetics Clinics

American Academy of Ophthalmology – Recommendations for Genetic Testing of Inherited Eye Disease – Report of the AAO Task Force on Genetic Testing – Updated 2014

American College of Medical Genetics Clinic Services Search Engine – ACMG's Genetics Clinics Database is a service for individuals who wish to locate a genetics center. The database contains the locations of genetics clinics that have requested to be listed.  You can view all U.S. clinics listed or search for a specific center or genetic services.

National Society of Genetic Counselors – The role of genetic testing in healthcare grows more prevalent and complex every day. NSGC offers resources to provide the most comprehensive, personalized care for your patients.

InformedDNA – InformedDNA is a network of genetic counselors available by telephone to help patients and physicians nationwide.

Testing for a Molecular Diagnosis

For specific information on genetic tests available, the type of testing and the requirements for submitting samples, visit the laboratory websites.  There are many more laboratories than can be listed here. The Foundation suggests the NIH Genetic Testing Registry (GTR) as a primary resource for available genetic tests and laboratory contact information.

National Institutes of Health Genetic Testing Registry - The National Institutes of Health (NIH) has created the Genetic Testing Registry (GTR), a public database of clinical and research-based genetic test providers that contains information about their tests and services. Inclusion in the GTR is voluntary, so this is not an exhaustive listing, but most labs are participating. The GTR covers all genetic testing, not just ophthalmic testing, and includes test providers both inside and outside of the U.S.

NIH National Eye Institute National Ophthalmic Genotyping Network eyeGene® - The Network includes a Coordinating Center, a repository for DNA, several CLIA-certified genetic testing laboratories and a shared genotype/phenotype database. The goal of the NEI is to augment, not diminish, existing university-based and commercial ventures, while providing a new entry portal with rapid, reliable, and easy access to medical professionals.  NOTE:  Sample collection will be suspended as of December 31, 2015.  For more information, visit the eyeGene website:  https://nei.nih.gov/eyegene/eyegene_notification

A partial list of CLIA Certified Laboratories in the U.S. Providing Tests for Retinal Degenerative Diseases

Baylor Medical Genetics Laboratory, Baylor College of Medicine

John and Marcia Carver Nonprofit Genetic Testing Laboratory, U. of Iowa

Casey Eye Institute Molecular Diagnostic Laboratory

Denver Genetic Laboratories, University of Colorado

Emory Genetics Laboratory, Emory University

GeneDx

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard

Prevention Genetics

Shiley Eye Center, University of California, San Diego