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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Nuclear Mitochondrial Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 221 |
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Combined mtDNA+Nuclear Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 12 | 221 |
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Molecular Vision Laboratory United States | 1358 | 1028 |
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TOP3A - 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 | 406 | 414 |
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Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 394 | 319 |
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Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 369 |
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Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States | 107 | 83 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Nuclear-Encoded Mitochondrial Disorders Panel CGC Genetics Unilabs Portugal | 1 | 306 |
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CGC Genetics Unilabs Portugal | 1 | 837 |
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Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 104 |
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Haematological diseases panel _v.2.0 CGC Genetics Unilabs Portugal | 1 | 344 |
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CGC Genetics Unilabs Portugal | 1 | 277 |
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CGC Genetics Unilabs Portugal | 1 | 662 |
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Mendelics Brazil | 1 | 311 |
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Mendelics Brazil | 1 | 311 |
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Hereditary Cancer Panel (Complete) Mendelics Brazil | 1 | 264 |
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Laboratorio de Genetica Clinica SL Spain | 1 | 152 |
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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.