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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States | 79 | 61 |
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Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 693 | 388 |
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SEC61A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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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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Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
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Invitae Cystic Kidney Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 96 | 44 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Invitae Progressive Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 310 | 195 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 525 | 338 |
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Hereditary Cystic Kidney Diseases Panel PreventionGenetics, part of Exact Sciences United States | 49 | 49 |
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Hyperuricemic nephropathy, familial juvenile NGS panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 3 |
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Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 3 |
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Hyperuricemic nephropathy, familial juvenile Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 3 |
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Polycystic kidney disease and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 29 | 22 |
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Polycystic kidney disease and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 29 | 22 |
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Polycystic kidney disease and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 28 | 21 |
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Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 552 | 424 |
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Invitae Agammaglobulinemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 39 | 36 |
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Hyperuricemic nephropathy, familial juvenile, 4 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany | 1 | 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.