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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1357 | 1028 |
|
RAB18 - 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 | 417 | 413 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Centogene AG - the Rare Disease Company Germany | 829 | 848 |
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Invitae Brain Malformations Panel Invitae United States | 247 | 161 |
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Microphthalmia/Anophthalmia/Coloboma Panel PreventionGenetics, part of Exact Sciences United States | 73 | 55 |
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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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Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States | 272 | 278 |
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PreventionGenetics, part of Exact Sciences United States | 157 | 171 |
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Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States | 130 | 81 |
|
PreventionGenetics, part of Exact Sciences United States | 5 | 4 |
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Warburg micro syndrome 3 (sequence analysis of RAB18 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Polymicrogyria panel. 17-gene NGS panel. Genologica Medica Spain | 22 | 17 |
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Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain | 110 | 57 |
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Brain Malformations Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 111 | 56 |
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CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 67 | 48 |
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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.