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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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Centogene AG - the Rare Disease Company Germany | 316 | 314 |
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SBDS - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
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Centogene AG - the Rare Disease Company Germany | 323 | 329 |
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Centogene AG - the Rare Disease Company Germany | 406 | 414 |
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Centogene AG - the Rare Disease Company Germany | 498 | 498 |
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Centogene AG - the Rare Disease Company Germany | 499 | 499 |
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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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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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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 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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Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States | 241 | 157 |
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Skeletal dysplasia extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 26 | 19 |
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Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
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Skeletal dysplasia core & extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 46 | 29 |
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Skeletal dysplasia extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 26 | 19 |
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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.