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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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MATR3 - 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 | 325 | 316 |
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Amyotrophic Lateral Sclerosis (ALS) / Dementia Panel Centogene AG - the Rare Disease Company Germany | 64 | 66 |
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Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) Panel PreventionGenetics United States | 48 | 40 |
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Amyotrophic Lateral Sclerosis (ALS) Panel PreventionGenetics United States | 36 | 33 |
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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 Hospital United States | 480 | 254 |
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Comprehensive Neuromuscular Panel PreventionGenetics United States | 183 | 142 |
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Invitae Comprehensive Myopathy Panel Invitae United States | 143 | 70 |
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Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States | 353 | 208 |
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PreventionGenetics United States | 21 | 21 |
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Distal Myopathy 2 via the MATR3 Gene PreventionGenetics United States | 1 | 1 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
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Frontotemporal dementia and/or Amyotrophic Lateral Sclerosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 30 | 30 |
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Amyotrophic Lateral Sclerosis NGS Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States | 25 | 30 |
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Congenital Myopathy and Distal Myopathy NGS panel Asper Biogene Asper Biogene LLC Estonia | 78 | 41 |
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Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 233 | 144 |
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Asper Biogene Asper Biogene LLC Estonia | 22 | 22 |
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Distal Myopathy Advanced Sequencing Evaluation Athena Diagnostics Inc United States | 27 | 17 |
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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.