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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Molecular Vision Laboratory United States | 1358 | 1028 |
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Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
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Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany | 451 | 452 |
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Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany | 442 | 443 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
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Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
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Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States | 292 | 253 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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SURF1 - Mitochondrial complex IV deficiency (Leigh syndrome) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 2 | 1 |
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Mitochondrial Complex IV Deficiency Panel (Nuclear Genes) PreventionGenetics, part of Exact Sciences United States | 8 | 16 |
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Invitae United States | 466 | 297 |
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Invitae Comprehensive Neuropathies Panel Invitae United States | 201 | 96 |
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Charcot-Marie-Tooth (CMT) - Comprehensive Panel PreventionGenetics, part of Exact Sciences United States | 91 | 83 |
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Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States | 123 | 52 |
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Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India | 376 | 317 |
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General panel of metabolic myopathies Genologica Medica Spain | 114 | 110 |
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SURF1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center 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.