Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 65 | 50 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 107 | 96 |
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MTHFD1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 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 | 323 | 329 |
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Centogene AG - the Rare Disease Company Germany | 406 | 414 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
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Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States | 92 | 68 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Abruptio placentae, susceptibility to (MTHFD1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
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Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 625 |
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Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel PreventionGenetics, part of Exact Sciences United States | 34 | 39 |
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Invitae United States | 177 | 130 |
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Invitae Methylmalonic Acidemia and Homocystinuria Panel Invitae United States | 29 | 29 |
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Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
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Hematology Comprehensive Panel CGC Genetics Unilabs Portugal | 1 | 291 |
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CGC Genetics Unilabs Portugal | 1 | 174 |
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CGC Genetics Unilabs Portugal | 1 | 385 |
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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.