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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Prenatal ccfDNA screening for fetal aneuploidy Laboratoire de Diagnostic Moleculaire Hopital Saint-Francois d'Assise du CHU de Québec UL Canada | 3 | 1 |
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High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
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Preimplantation genetic screening by microarray Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States | 62 | 25 |
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Rapid microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
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GATA1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 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 | 110 | 112 |
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Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
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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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Invitae Chromosomal Microarray Analysis Invitae United States | 62 | 25 |
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Invitae NIPS for Singleton Pregnancies (chromosomes 13, 18, 21) Invitae United States | 11 | 11 |
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Invitae NIPS for Twin Pregnancies (chromosomes 13, 18, 21) Invitae United States | 3 | 3 |
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Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
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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.