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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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P4HB - 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 | 406 | 414 |
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Centogene AG - the Rare Disease Company Germany | 95 | 95 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
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PreventionGenetics, part of Exact Sciences United States | 41 | 38 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 110 | 50 |
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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 | 110 | 45 |
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Osteogenesis imperfecta NGS panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States | 30 | 24 |
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Osteogenesis imperfecta NGS panel - Dominant HNL Genomics Connective Tissue Gene Tests United States | 9 | 7 |
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Osteogenesis imperfecta Deletion / Duplication panel - Dominant HNL Genomics Connective Tissue Gene Tests United States | 9 | 7 |
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Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States | 30 | 24 |
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Osteogenesis imperfecta Comprehensive panel - Dominant HNL Genomics Connective Tissue Gene Tests United States | 9 | 7 |
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Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States | 30 | 24 |
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Invitae Osteogenesis Imperfecta and Bone Fragility Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 120 | 65 |
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Cole-Carpenter syndrome type 1 (sequence analysis of P4HB gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 34 | 26 |
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