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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 | 163 | 110 |
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Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States | 79 | 61 |
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TRNT1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 754 | 562 |
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Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Invitae Iron Related Disorders Panel Invitae United States | 39 | 27 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 249 | 155 |
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Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States | 292 | 253 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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TRNT1 gene (Sequence Analysis-All Coding Exons) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
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Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States | 223 | 154 |
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Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
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Invitae Agammaglobulinemia Panel Invitae United States | 39 | 36 |
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Invitae Periodic Fever Syndromes Panel Invitae United States | 32 | 18 |
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Mitochondrial genome sequencing Molecular Vision Laboratory United States | 526 | 339 |
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Mediterranean/periodic Fever panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 12 | 12 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Hereditary Sideroblastic Anemia Asper Biogene Asper Biogene LLC Estonia | 10 | 9 |
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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.