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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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FKBP10 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 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 | 498 | 498 |
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Centogene AG - the Rare Disease Company Germany | 499 | 499 |
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Centogene AG - the Rare Disease Company Germany | 325 | 316 |
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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 Invitae United States | 624 | 349 |
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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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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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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 Comprehensive panel - Recessive HNL Genomics Connective Tissue Gene Tests United States | 23 | 19 |
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Osteogenesis imperfecta NGS panel - Recessive HNL Genomics Connective Tissue Gene Tests United States | 23 | 19 |
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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 Deletion / Duplication panel - Recessive HNL Genomics Connective Tissue Gene Tests United States | 23 | 19 |
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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 Invitae United States | 120 | 65 |
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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.