| Autor: |
Martina Witsch‐Baumgartner, Gunda Schwaninger, Simon Schnaiter, Franziska Kollmann, Silja Burkhard, Rebekka Gröbner, Beatrix Mühlegger, Esther Schamschula, Peter Kirchmeier, Johannes Zschocke |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Molecular Genetics & Genomic Medicine, Vol 10, Iss 9, Pp n/a-n/a (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2324-9269 |
| DOI: |
10.1002/mgg3.2016 |
| Popis: |
Abstract Genotyping arrays are by far the most widely used genetic tests but are not generally utilized for diagnostic purposes in a medical context. In the present study, we examined the diagnostic value of a standard genotyping array (Illumina Global Screening Array) for a range of indications. Applications included stand‐alone testing for specific variants (32 variants in 10 genes), first‐tier array variant screening for monogenic conditions (10 different autosomal recessive metabolic diseases), and diagnostic workup for specific conditions caused by variants in multiple genes (suspected familial breast and ovarian cancer, and hypercholesterolemia). Our analyses showed a high analytical sensitivity and specificity of array‐based analyses for validated and non‐validated variants, and identified pitfalls that require attention. Ethical‐legal assessment highlighted the need for a software solution that allows for individual indication‐based consent and the reliable exclusion of non‐consented results. Cost/time assessment revealed excellent performance of diagnostic array analyses, depending on indication, proband data, and array design. We have implemented some analyses in our diagnostic portfolio, but array optimization is required for the implementation of other indications. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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