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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 1 |
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Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Mayo Clinic Laboratories Mayo Clinic United States | 39 | 40 |
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Centogene AG - the Rare Disease Company Germany | 1 | 37 |
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Genetic Services Laboratory University of Chicago United States | 1 | 1 |
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Schaaf-yang syndrome testing (MAGEL2) Genetic Services Laboratory University of Chicago United States | 2 | 1 |
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Oculodentodigital dysplasia testing (GJA1) Genetic Services Laboratory University of Chicago United States | 1 | 1 |
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Marshall-smith syndrome testing (NFIX) Genetic Services Laboratory University of Chicago United States | 2 | 1 |
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IMAGe syndrome testing (CDKN1C) Genetic Services Laboratory University of Chicago United States | 2 | 1 |
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Genetic Services Laboratory University of Chicago United States | 14 | 18 |
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Short syndrome testing (PIK3R1) Genetic Services Laboratory University of Chicago United States | 1 | 1 |
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Rhizomelic Chondrodysplasia Punctata Panel Genetic Services Laboratory University of Chicago United States | 3 | 9 |
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Genetic Services Laboratory University of Chicago United States | 72 | 133 |
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Widemann-steiner syndrome testing (KMT2A) Genetic Services Laboratory University of Chicago United States | 1 | 1 |
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Genetic Services Laboratory University of Chicago United States | 3 | 17 |
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Genetic Services Laboratory University of Chicago United States | 10 | 15 |
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Genetic Services Laboratory University of Chicago United States | 13 | 24 |
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Nicolaides-baraitser syndrome testing (SMARCA2) Genetic Services Laboratory University of Chicago United States | 1 | 1 |
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Neuronal Ceroid-Lipofuscinoses Panel Genetic Services Laboratory University of Chicago United States | 11 | 13 |
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Genetic Services Laboratory University of Chicago United States | 9 | 13 |
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Genetic Services Laboratory University of Chicago United States | 12 | 11 |
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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.