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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Mayo Clinic Laboratories Mayo Clinic United States | 182 | 117 |
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Mayo Clinic Laboratories Mayo Clinic United States | 65 | 50 |
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Centogene AG - the Rare Disease Company Germany | 316 | 314 |
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IL2RG - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 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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Centogene AG - the Rare Disease Company Germany | 829 | 848 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
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Invitae Congenital Diarrhea Panel Invitae United States | 121 | 83 |
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CPM Focused Exome Sequencing Analysis and Interpreta Children's Hospital of Los Angeles, Center for Personalized Medicine United States | 4 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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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 United States | 224 | 112 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Invitae United States | 37 | 24 |
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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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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.