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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 35 | 26 |
|
PIK3R1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
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PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
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Invitae Congenital Diarrhea Panel Invitae United States | 121 | 83 |
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PreventionGenetics, part of Exact Sciences United States | 101 | 54 |
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Invitae United States | 57 | 27 |
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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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Generalized, Partial and Atypical Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States | 57 | 29 |
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Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States | 241 | 157 |
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Primary Antibody Deficiency Panel PreventionGenetics, part of Exact Sciences United States | 50 | 46 |
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PreventionGenetics, part of Exact Sciences United States | 12 | 13 |
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Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel Invitae United States | 22 | 13 |
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Invitae Hyper IgM Syndrome Panel Invitae United States | 8 | 6 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 3 | 1 |
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Severe-Chronic EBV (CAEBV) Immunodeficiency Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 70 | 44 |
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Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 25 | 25 |
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Agammaglobulinemia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 9 | 9 |
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Primary Antibody Deficiency NGS Panel Fulgent Genetics United States | 102 | 37 |
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Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
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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.