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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
BEST1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
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Invitae Macular Dystrophy Panel Invitae United States | 66 | 36 |
|
PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
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Bestrophinopathy, autosomal recessive, 611809; ARB (Autosomal recessive bestrophinopathy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
|
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States | 272 | 278 |
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PreventionGenetics, part of Exact Sciences United States | 157 | 171 |
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Molecular Vision Laboratory United States | 342 | 268 |
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Stargardt Disease (STGD) and Macular Dystrophies Panel PreventionGenetics, part of Exact Sciences United States | 35 | 28 |
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Comprehensive Vitreoretinopathy Panel PreventionGenetics, part of Exact Sciences United States | 26 | 21 |
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Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands | 5 | 1 |
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PreventionGenetics, part of Exact Sciences United States | 37 | 35 |
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Baylor Genetics United States | 842 | 637 |
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BEST1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States | 5 | 1 |
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Baylor Genetics United States | 5 | 1 |
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BEST1 Deletion/Duplication Analysis Baylor Genetics United States | 5 | 1 |
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BEST1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 5 | 1 |
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Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 Gene PreventionGenetics, part of Exact Sciences United States | 5 | 1 |
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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.