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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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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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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Mayo Clinic Laboratories Mayo Clinic United States | 2 | 1 |
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Molecular Vision Laboratory United States | 1358 | 1028 |
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PRPH2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 1 |
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Invitae Macular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 66 | 36 |
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PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
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Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 486 | 293 |
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Molecular Vision Laboratory United States | 342 | 268 |
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Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands | 4 | 1 |
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PRPH2 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 5 | 1 |
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Baylor Genetics United States | 5 | 1 |
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PRPH2 Deletion/Duplication Analysis Baylor Genetics United States | 5 | 1 |
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PRPH2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States | 5 | 1 |
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PreventionGenetics, part of Exact Sciences United States | 37 | 35 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 5 | 1 |
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Macular dystrophy panel. NGS panel of 26 genes. Genologica Medica Spain | 50 | 26 |
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Rod and cone dystrophy panel. 42-gene NGS panel. Genologica Medica Spain | 65 | 41 |
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Genologica Medica Spain | 164 | 108 |
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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.