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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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Mayo Clinic Laboratories Mayo Clinic United States | 30 | 18 |
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USB1 - 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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Centogene AG - the Rare Disease Company Germany | 157 | 151 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
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Invitae Hypopigmentation Panel Invitae United States | 83 | 46 |
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Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States | 92 | 68 |
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Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 267 | 186 |
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Hereditary Myeloid Malignancy Panel Genetic Services Laboratory University of Chicago United States | 37 | 85 |
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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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Inherited Bone Marrow Failure Panel Genetic Services Laboratory University of Chicago United States | 30 | 59 |
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Dyskeratosis Congenita (DC) and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States | 15 | 12 |
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Hereditary Bone Marrow Failure Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 50 | 75 |
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Versiti Diagnostic Laboratories Versiti, Inc United States | 1 | 1 |
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FERMT1 Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 2 | 1 |
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Fulgent Genetics United States | 180 | 60 |
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Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
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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.