Filters
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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MUSK - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Congenital Myasthenic Syndrome Panel PreventionGenetics, part of Exact Sciences United States | 59 | 32 |
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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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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States | 183 | 142 |
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Invitae Congenital Myasthenic Syndrome Panel Invitae United States | 38 | 21 |
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Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States | 353 | 208 |
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Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain | 135 | 69 |
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Congenital myasthenic syndromes panel. 18-gene NGS panel. Genologica Medica Spain | 38 | 18 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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Congenital Myasthenic Syndromes (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 26 | 22 |
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Myastenia Syndrome Panel, Congenital CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 29 | 15 |
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Myasthenic syndrome, congenital: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 31 | 25 |
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Congenital Myasthenic Syndrome Asper Biogene Asper Biogene LLC Estonia | 46 | 23 |
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Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Reference Laboratory Genetics Spain | 159 | 111 |
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Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes Reference Laboratory Genetics Spain | 18 | 12 |
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Congenital Contractures NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 81 | 57 |
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Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 233 | 144 |
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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.