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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
L2HGDH - 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 | 669 | 688 |
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Centogene AG - the Rare Disease Company Germany | 406 | 414 |
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Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
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2-OH Glutaric Aciduria Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 5 | 4 |
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PreventionGenetics, part of Exact Sciences United States | 39 | 41 |
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Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
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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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Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States | 202 | 212 |
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Hydroxyglutaric Aciduria Panel PreventionGenetics, part of Exact Sciences United States | 4 | 4 |
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L-2-Hydroxyglutaric Aciduria Type I via the L2HGDH Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Genetic Services Laboratory University of Chicago United States | 289 | 481 |
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2-Hydroxyglutaric Aciduria Panel Genetic Services Laboratory University of Chicago United States | 3 | 4 |
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Genetic Services Laboratory University of Chicago United States | 93 | 170 |
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Invitae Organic Acidemias Panel Invitae United States | 108 | 97 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 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.