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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 243 | 238 |
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EPG5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
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Centogene AG - the Rare Disease Company Germany | 734 | 744 |
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Centogene AG - the Rare Disease Company Germany | 323 | 329 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Centogene AG - the Rare Disease Company Germany | 157 | 151 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
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Invitae Hypopigmentation Panel Invitae United States | 83 | 46 |
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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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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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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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PreventionGenetics, part of Exact Sciences United States | 156 | 73 |
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PreventionGenetics, part of Exact Sciences United States | 39 | 33 |
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Invitae United States | 177 | 130 |
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Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
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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.