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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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COL6A3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 638 | 419 |
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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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Invitae Congenital Muscular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 64 | 28 |
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Invitae Comprehensive Muscular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 114 | 52 |
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Invitae Comprehensive Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 143 | 70 |
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Invitae Congenital Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 58 | 36 |
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Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 353 | 208 |
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Invitae Dystonia Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 61 | 38 |
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Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States | 99 | 65 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 3 | 1 |
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Panel of disorders related to collagen type VI. 6-gene NGS panel. Genologica Medica Spain | 11 | 6 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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Asper Biogene Asper Biogene LLC Estonia | 59 | 28 |
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Muscular Dystrophy Panel, Congenital CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 47 | 20 |
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Neuromuscular Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 138 | 62 |
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Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
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Dystonia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 19 | 18 |
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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.