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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 8 | 26 |
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HSPB1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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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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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 480 | 254 |
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Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States | 376 | 266 |
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Comprehensive Neuropathy Panel PreventionGenetics, part of Exact Sciences United States | 209 | 145 |
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Invitae Hereditary Motor Neuropathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 60 | 26 |
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Invitae Comprehensive Neuropathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 201 | 96 |
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Invitae Charcot-Marie Tooth Disease Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 123 | 52 |
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Distal Hereditary Motor Neuropathy Panel PreventionGenetics, part of Exact Sciences United States | 30 | 22 |
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Heat Shock 27 kDa Protein-Related Disorders via the HSPB1 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Predominantly distal muscular atrophy Genologica Medica Spain | 43 | 18 |
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Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain | 65 | 30 |
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Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands | 2 | 1 |
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Charcot-Marie-Tooth Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 85 | 30 |
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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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Spinal Muscular Atrophy NGS Panel Fulgent Genetics United States | 93 | 29 |
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Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States | 185 | 53 |
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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.