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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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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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BloodGenetics Spain | 22 | 22 |
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NGS Panel for Bone Marrow failure BloodGenetics Spain | 56 | 69 |
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UBE2T - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
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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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VACTERL Association and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States | 123 | 84 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 249 | 155 |
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Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 266 | 186 |
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Hereditary Myeloid Malignancy Panel Genetic Services Laboratory University of Chicago United States | 37 | 85 |
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Invitae Bone Marrow Failure Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 137 | 85 |
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Genetic Services Laboratory University of Chicago United States | 20 | 19 |
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Labcorp Genetics (formerly Invitae) LabCorp United States | 26 | 15 |
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PreventionGenetics, part of Exact Sciences United States | 20 | 22 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
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Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 50 | 75 |
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UBE2T 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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Fanconi Anemia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 21 | 21 |
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Fulgent Genetics United States | 80 | 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.