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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Congenital Neutropenia GenePanel Mayo Clinic Laboratories Mayo Clinic United States | 46 | 30 |
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CSF3R - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
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Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States | 92 | 68 |
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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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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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Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
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Invitae Bone Marrow Failure Syndromes Panel Invitae United States | 138 | 85 |
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Severe Congenital Neutropenia Panel PreventionGenetics, part of Exact Sciences United States | 26 | 25 |
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Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain | 194 | 122 |
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Congenital neutropenia panel. NGS panel of 26 genes. Genologica Medica Spain | 35 | 25 |
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Asper Biogene Asper Biogene LLC Estonia | 33 | 26 |
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CSF3R 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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Versiti Diagnostic Laboratories Versiti, Inc United States | 1 | 1 |
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CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 95 | 62 |
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CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 23 | 15 |
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Neutropenia, severe congenital: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 8 | 8 |
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Severe Congenital Neutropenia (Extended Panel) , Panel Massive Sequencing (NGS) 20 Genes Reference Laboratory Genetics Spain | 22 | 20 |
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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.