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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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maternal UPD chr. 14 Gene Temple syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
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TFG - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Labcorp Genetics (formerly Invitae) LabCorp United States | 72 | 33 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 638 | 419 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 480 | 254 |
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Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 50 | 43 |
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Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests United States | 50 | 43 |
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Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 50 | 43 |
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TFG-Related Disorders via the TFG Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
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Comprehensive Neuropathy Panel PreventionGenetics, part of Exact Sciences United States | 82 | 71 |
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Invitae Comprehensive Neuropathies Panel Labcorp Genetics (formerly Invitae) LabCorp 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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Optic Atrophy and Neuropathy Panel PreventionGenetics, part of Exact Sciences United States | 98 | 70 |
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Invitae Hereditary Spastic Paraplegia Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 98 | 62 |
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Invitae Charcot-Marie Tooth Disease Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 123 | 52 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 76 | 54 |
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Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States | 185 | 53 |
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Invitae Amyotrophic Lateral Sclerosis Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 29 | 21 |
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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.