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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 163 | 110 |
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Dysregulation/Autoimmune Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 39 | 30 |
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TGFB1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
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Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 195 | 92 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
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Invitae Congenital Diarrhea Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 121 | 83 |
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Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
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Bone Fragility and Fracture Panel PreventionGenetics, part of Exact Sciences United States | 87 | 74 |
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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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Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States | 241 | 157 |
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PreventionGenetics, part of Exact Sciences United States | 177 | 161 |
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Osteopetrosis and Dense bone dysplasia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 28 |
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Osteopetrosis and Dense bone dysplasia NGS panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 28 |
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Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 31 | 28 |
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Invitae Autoinflammatory and Autoimmunity Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 223 | 154 |
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Invitae Monogenic Inflammatory Bowel Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 108 | 67 |
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Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 552 | 424 |
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TGFB1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 2 | 1 |
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TGFB1 Deletion/Duplication Analysis Baylor Genetics United States | 2 | 1 |
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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.