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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
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ASCL1 - 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 | 99 | 101 |
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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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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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Congenital Central Hypoventilation Syndrome (CCHS) via the ASCL1 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Congenital Central Hypoventilation Syndrome (CCHS) Panel PreventionGenetics, part of Exact Sciences United States | 3 | 7 |
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Central hypoventilation syndrome (WES based NGS panel of 6 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 6 |
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CGC Genetics Unilabs Portugal | 1 | 107 |
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Central hypoventilation syndrome (sequence analysis of ASCL1 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Hereditary Cancer Panel (Complete) Mendelics Brazil | 1 | 264 |
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HIRSCHSPRUNG DISEASE EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 18 |
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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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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.