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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Mayo Clinic Laboratories Mayo Clinic United States | 163 | 110 |
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Dysregulation/Autoimmune Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 39 | 30 |
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Centogene AG - the Rare Disease Company Germany | 323 | 329 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
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Invitae Autoinflammatory and Autoimmunity Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 223 | 154 |
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Labcorp Genetics (formerly Invitae) LabCorp United States | 177 | 130 |
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Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 552 | 424 |
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Inborn Errors of Immunity Panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States | 8 | 9 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Detection of N642H somatic mutation of STAT5B gene CGC Genetics Unilabs Portugal | 1 | 1 |
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Comprehensive Short Stature Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States | 82 | 60 |
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Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
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B-Positive Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States | 38 | 26 |
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Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States | 330 | 90 |
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GROWTH HORMONE INSENSITIVITY SYNDROME Laboratorio de Genetica Clinica SL Spain | 2 | 2 |
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Fulgent Genetics United States | 1 | 1 |
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Fulgent Genetics United States | 5128 | 4672 |
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Severe combined immunodeficiency (SCID) panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands | 30 | 27 |
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Intellectual Disability NGS Panel Fulgent Genetics United States | 1058 | 554 |
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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.