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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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GeneID Lab - Advanced Molecular Diagnostics United States | 60 | 34 |
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LIG4 - 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 Microcephalic Primordial Dwarfism and Seckel Syndrome Panel Invitae United States | 48 | 38 |
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Invitae Congenital Diarrhea Panel Invitae United States | 121 | 83 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 267 | 186 |
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Severe Combined Immunodeficiency (SCID) Panel PreventionGenetics, part of Exact Sciences United States | 21 | 17 |
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Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States | 241 | 157 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States | 223 | 154 |
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Invitae Monogenic Inflammatory Bowel Disease Panel Invitae United States | 108 | 67 |
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Invitae United States | 177 | 130 |
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Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
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Neoplasia Chromosomal Microarray Analysis Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington United States | 15 | 1 |
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Multiple Myeloma Microarray+FISH Panel on CD138 Purified Plasma Cells Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States | 1 | 10 |
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Expanded Polycystic Kidney Disease NGS Panel Fulgent Genetics United States | 61 | 34 |
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B-Negative Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States | 73 | 13 |
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Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
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Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States | 330 | 90 |
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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.