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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
GATA1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 1 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
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Invitae Inherited Platelet Disorders Including Thrombocytopenia Panel Invitae United States | 70 | 50 |
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Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Invitae United States | 44 | 28 |
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Invitae Hereditary Hemolytic Anemia Panel Invitae United States | 74 | 39 |
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Invitae Congenital Dyserythropoietic Anemia (CDA) Panel Invitae United States | 12 | 7 |
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Invitae Comprehensive Porphyrias Panel Invitae United States | 15 | 10 |
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Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
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Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 267 | 186 |
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Hereditary Hemolytic Anemia Panel PreventionGenetics, part of Exact Sciences United States | 44 | 34 |
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Thrombocytopenia Comprehensive Panel HNL Genomics Connective Tissue Gene Tests United States | 25 | 28 |
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Thrombocytopenia Deletion / Duplication Panel HNL Genomics Connective Tissue Gene Tests United States | 25 | 28 |
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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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Invitae Diamond-Blackfan Anemia Panel Invitae United States | 16 | 13 |
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Severe Congenital Neutropenia Panel PreventionGenetics, part of Exact Sciences United States | 26 | 25 |
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Genetic Services Laboratory University of Chicago United States | 15 | 21 |
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Inherited Bone Marrow Failure Panel Genetic Services Laboratory University of Chicago United States | 30 | 59 |
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X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States | 240 | 171 |
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Fulgent Genetics United States | 180 | 60 |
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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.