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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 30 | 18 |
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NGS Panel for Dyskeratosis congenita BloodGenetics Spain | 12 | 16 |
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NGS Panel for Diamond-Blackfan Anemia BloodGenetics Spain | 23 | 32 |
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NGS Panel for Bone Marrow failure BloodGenetics Spain | 57 | 69 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 250 | 155 |
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Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 267 | 186 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 163 | 128 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 24 | 15 |
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Hereditary Myeloid Malignancy Panel Genetic Services Laboratory University of Chicago United States | 37 | 85 |
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Telomere Biology Disorder/Dyskeratosis Congenita Panel Genetic Services Laboratory University of Chicago United States | 6 | 16 |
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Inherited Bone Marrow Failure Panel Genetic Services Laboratory University of Chicago United States | 30 | 59 |
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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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NAF1 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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Hermansky-Pudlak Syndrome & Pulmonary Fibrosis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 36 | 40 |
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Comprehensive Pulmonary NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 123 | 124 |
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Hereditary Hematopoietic Malignancy/Immunodeficiency Predisposition Panel Genetic Services Laboratory University of Chicago United States | 7 | 135 |
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Comprehensive Hereditary Cancer Panel Genetic Services Laboratory University of Chicago United States | 25 | 139 |
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Fulgent Genetics United States | 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.