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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
BloodGenetics Spain | 22 | 22 |
|
NGS Panel for Bone Marrow failure BloodGenetics Spain | 56 | 69 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 754 | 562 |
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VACTERL Association and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States | 123 | 84 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 249 | 155 |
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Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 266 | 186 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
|
Fanconi Anemia via the RFWD3 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
|
PreventionGenetics, part of Exact Sciences United States | 20 | 22 |
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Primary Immunodeficiency Panel Baylor Genetics United States | 1 | 463 |
|
Fanconi anemia (NGS panel for 22 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 22 |
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Hematology Comprehensive Panel CGC Genetics Unilabs Portugal | 1 | 291 |
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Bone Marrow Failure Syndrome Panel CGC Genetics Unilabs Portugal | 1 | 175 |
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CGC Genetics Unilabs Portugal | 1 | 174 |
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Mendelics Brazil | 1 | 183 |
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Hereditary Cancer Panel (Complete) Mendelics Brazil | 1 | 264 |
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Immunodeficiencies and Immunologic Diseases Panel (Complete) Mendelics Brazil | 1 | 397 |
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Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Prenatal Known Familial Mutation GeneDx United States | 1 | 1716 |
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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.