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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
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ABCA4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
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Centogene AG - the Rare Disease Company Germany | 669 | 688 |
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Centogene AG - the Rare Disease Company Germany | 417 | 413 |
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Invitae Macular Dystrophy Panel Invitae United States | 66 | 36 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Fundus flavimaculatus, 248200, Autosomal recessive (Stargardt disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Retinal dystrophy, early-onset severe, 248200, Autosomal recessive (Stargardt disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Stargardt disease 1, 248200, Autosomal recessive; STGD1 (Stargardt disease) (MLPA) 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 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Stargardt Disease and Macular Dystrophies Amplexa Genetics Amplexa Genetics A/S Denmark | 2 | 23 |
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Molecular Vision Laboratory United States | 342 | 268 |
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PreventionGenetics, part of Exact Sciences United States | 11 | 13 |
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Stargardt Disease (STGD) and Macular Dystrophies Panel PreventionGenetics, part of Exact Sciences United States | 35 | 28 |
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Leber Congenital Amaurosis Panel PreventionGenetics, part of Exact Sciences United States | 27 | 28 |
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Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands | 4 | 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.