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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Centogene AG - the Rare Disease Company Germany | 195 | 221 |
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Centogene AG - the Rare Disease Company Germany | 316 | 314 |
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PFKM - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Carrier Screening Guidelines-Based Panel Ambry Genetics United States | 199 | 164 |
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Carrier Screening Ashkenazi Jewish Panel Ambry Genetics United States | 51 | 47 |
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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 | 247 | 262 |
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Centogene AG - the Rare Disease Company Germany | 325 | 316 |
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Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
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Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States | 202 | 128 |
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Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Invitae United States | 57 | 28 |
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Invitae United States | 173 | 119 |
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Invitae Hereditary Hemolytic Anemia Panel Invitae United States | 74 | 39 |
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Hereditary Hemolytic Anemia Cascade ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 24 | 31 |
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Hereditary Hemolytic Anemia Panel PreventionGenetics, part of Exact Sciences United States | 44 | 34 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Invitae Comprehensive Glycogen Storage Disease Panel Invitae United States | 37 | 28 |
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Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States | 106 | 83 |
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Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States | 183 | 142 |
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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.