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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
AHCY - 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 | 669 | 688 |
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Centogene AG - the Rare Disease Company Germany | 325 | 316 |
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Centogene AG - the Rare Disease Company Germany | 829 | 848 |
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Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States | 202 | 128 |
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Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
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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 Metabolic Non-Immune Fetal Hydrops Panel Invitae United States | 50 | 51 |
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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 Methylmalonic Acidemia and Homocystinuria Panel Invitae United States | 29 | 29 |
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Invitae Elevated Methionine Panel Invitae United States | 8 | 7 |
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Quantitative Genomic Medicine Laboratories, SL Spain | 328 | 300 |
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Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States | 201 | 158 |
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Invitae Organic Acidemias Panel Invitae United States | 108 | 97 |
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Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States | 353 | 208 |
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S-Adenosylhomocysteine Hydrolase Deficiency via the AHCY Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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PreventionGenetics, part of Exact Sciences United States | 4 | 4 |
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Baylor Genetics United States | 1 | 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.