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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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DIAMOND-BLACKFAN ANEMIA EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 17 |
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Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
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RPS27 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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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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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 1 | 90 |
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Comprehensive Bone Marrow Failure (BMF)/Myelodysplastic Syndrome (MDS)/Leukemia Predisposition Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 4 | 112 |
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Inherited Red Blood Cell Disorder Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 17 | 52 |
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Diamond-Blackfan anemia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 20 | 20 |
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Fulgent Genetics United States | 1 | 1 |
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Diamond-Blackfan anemia panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 4 | 25 |
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Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 112 | 116 |
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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.