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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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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 | 56 | 69 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 754 | 562 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 249 | 155 |
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Diamond-Blackfan anemia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 18 |
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Diamond-Blackfan anemia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 18 |
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Diamond-Blackfan anemia NGS panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 18 |
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Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 266 | 186 |
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Diamond-Blackfan anemia Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 18 |
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Diamond-Blackfan anemia Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 18 |
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Diamond-Blackfan anemia NGS panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 18 |
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PreventionGenetics, part of Exact Sciences United States | 18 | 23 |
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Genetic Services Laboratory University of Chicago United States | 15 | 21 |
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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 | 174 |
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Mendelics Brazil | 1 | 183 |
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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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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.