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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Genetic Services Laboratory University of Chicago United States | 72 | 133 |
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KATNB1 - 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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PreventionGenetics, part of Exact Sciences United States | 29 | 28 |
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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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PreventionGenetics, part of Exact Sciences United States | 79 | 52 |
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Lissencephaly-6 with Microcephaly via the KATNB1 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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HNL Genomics Connective Tissue Gene Tests United States | 11 | 10 |
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Lissencephaly core Comprehensive test HNL Genomics Connective Tissue Gene Tests United States | 11 | 10 |
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Lissencephaly core Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States | 11 | 10 |
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Lissencephaly and related disorders Comprehensive test HNL Genomics Connective Tissue Gene Tests United States | 46 | 42 |
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Lissencephaly and related disorders Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States | 46 | 42 |
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Lissencephaly and related disorders NGS test HNL Genomics Connective Tissue Gene Tests United States | 46 | 42 |
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Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States | 37 | 131 |
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MNG Laboratories (Medical Neurogenetics, LLC.) United States | 414 | 800 |
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Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain | 63 | 48 |
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Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain | 110 | 57 |
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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.