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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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AudioloGene Hearing Loss Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 200 |
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CFP - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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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 Complement Deficiency Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 35 | 22 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 525 | 338 |
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Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
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Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 552 | 424 |
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OtoGenome Test for Hearing Loss (110 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States | 23 | 109 |
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X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States | 240 | 171 |
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Plugin system clutter panel. NGS panel of 75 genes. Genologica Medica Spain | 76 | 75 |
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CFP Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
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Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 28 | 33 |
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Comprehensive Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States | 58 | 37 |
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Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
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Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
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CeGaT GmbH Germany | 8 | 34 |
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Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States | 1 | 121 |
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Fulgent Genetics United States | 1 | 1 |
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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.