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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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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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COL6A2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 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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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Centogene AG - the Rare Disease Company Germany | 829 | 848 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 480 | 254 |
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Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
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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 | 61 | 37 |
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Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 353 | 208 |
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Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States | 99 | 65 |
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Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain | 135 | 69 |
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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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Myosclerosis, congenital: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
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GeneDx United States | 156 | 91 |
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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.