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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
HNRNPH2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
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Centogene AG - the Rare Disease Company Germany | 777 | 770 |
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Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States | 224 | 170 |
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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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qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
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Genetic Services Laboratory University of Chicago United States | 289 | 481 |
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X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States | 191 | 141 |
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MNG Laboratories (Medical Neurogenetics, LLC.) United States | 414 | 800 |
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CGC Genetics Unilabs Portugal | 1 | 832 |
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CGC Genetics Unilabs Portugal | 1 | 1293 |
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Epileptic encephalopathy (WES based NGS panel of 137 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 137 |
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Mendelics Brazil | 1 | 43 |
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Rubinstein-Taybi and Related Syndromes Panel Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 5 | 7 |
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Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
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Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
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GeneDx United States | 2 | 2592 |
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GeneDx United States | 1 | 1501 |
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Mental retardation, X-linked syndromic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 33 | 31 |
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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.