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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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Mayo Clinic Laboratories Mayo Clinic United States | 30 | 18 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 23 | 15 |
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NHP2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 323 | 329 |
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Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
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Centogene AG - the Rare Disease Company Germany | 157 | 151 |
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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 Telomere Biology Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 21 | 13 |
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Invitae Hypopigmentation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 83 | 46 |
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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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Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 124 | 69 |
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Ambry Genetics United States | 12 | 7 |
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Labcorp Genetics (formerly Invitae) LabCorp United States | 186 | 130 |
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Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 603 | 446 |
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Invitae Bone Marrow Failure Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 137 | 85 |
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Dyskeratosis Congenita (DC) via the NHP2 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Dyskeratosis Congenita (DC) and Related Telomere Biology Disorders Panel PreventionGenetics, part of Exact Sciences United States | 15 | 17 |
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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.