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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
EML1 - 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 | 734 | 744 |
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Invitae Brain Malformations Panel Invitae United States | 247 | 161 |
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PreventionGenetics, part of Exact Sciences United States | 41 | 38 |
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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 | 3 | 16 |
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Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States | 37 | 131 |
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CGC Genetics Unilabs Portugal | 5 | 110 |
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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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HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
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Laboratorio de Genetica Clinica SL Spain | 1 | 696 |
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Band heterotopia: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
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Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
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Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 19 | 560 |
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GeneDx United States | 1 | 877 |
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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.