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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Mayo Clinic Laboratories Mayo Clinic United States | 182 | 117 |
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Centogene AG - the Rare Disease Company Germany | 323 | 329 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 754 | 562 |
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Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States | 92 | 68 |
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Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 266 | 186 |
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Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States | 241 | 157 |
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Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
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Severe Congenital Neutropenia Panel PreventionGenetics, part of Exact Sciences United States | 26 | 25 |
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Hereditary neutropenia (WES based NGS panel of 35 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 35 |
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Hematology Comprehensive Panel CGC Genetics Unilabs Portugal | 1 | 291 |
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Bone Marrow Failure Syndrome Panel CGC Genetics Unilabs Portugal | 1 | 175 |
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CGC Genetics Unilabs Portugal | 1 | 385 |
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Congenital neutropenia panel. NGS panel of 26 genes. Genologica Medica Spain | 35 | 25 |
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Periodic fever, immunodeficiency, and thrombocytopenia syndrome Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany | 1 | 1 |
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WDR1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
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Periodic fever syndromes with/without urticaria CeGaT GmbH Germany | 1 | 11 |
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Prenatal Known Familial Mutation GeneDx United States | 1 | 1716 |
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Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States | 1 | 1718 |
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GeneDx United States | 2 | 2592 |
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Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
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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.