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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
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Rapid microarray (CGH and SNP) Allele Diagnostics United States | 247 | 231 |
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PHF8 - 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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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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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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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 110 | 45 |
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PreventionGenetics, part of Exact Sciences United States | 177 | 161 |
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Quantitative Genomic Medicine Laboratories, SL Spain | 327 | 300 |
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X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States | 191 | 141 |
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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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X-linked intellectual disability panel. 99-gene NGS panel. Genologica Medica Spain | 143 | 99 |
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Intellectual Disability X-linked Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 136 | 90 |
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Intellectual Disability & Autism Spectrum Disorders Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 210 | 139 |
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Mental retardation, X-linked syndromic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 34 | 32 |
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X-Linked Intellectual Disability, Siderius Type (PHF8 Single Gene Test) Fulgent Genetics United States | 1 | 1 |
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Fulgent Genetics United States | 1 | 1 |
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Fulgent Genetics United States | 5128 | 4672 |
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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.