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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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ENO3 - 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 | 247 | 262 |
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Centogene AG - the Rare Disease Company Germany | 325 | 316 |
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Invitae United States | 173 | 119 |
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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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Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
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ENO3 - Glycogen storage disease type XIII Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
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Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
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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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Glycogen Storage Disease and Disorders of Glucose Metabolism Panel PreventionGenetics, part of Exact Sciences United States | 33 | 33 |
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ENO3 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 1 | 1 |
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Baylor Genetics United States | 1 | 1 |
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Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India | 376 | 317 |
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Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain | 89 | 52 |
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Glycogen storage disorder panel. 29-gene NGS panel. Genologica Medica Spain | 33 | 29 |
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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.