Practical guide to genetic testing in pediatrics
If you are not a Geneticist and you have to approach the world of genetic testing, you may have some difficulty in choosing the best test for your patient. In recent years, thanks to the advancement of Next-Generation Sequencing (NGS) technologies, the lowering of their costs and the increase in knowledge about genetic diseases, the […]Continue reading
Primary ciliary dyskinesia
Panel testing recommended at Breda Genetics for this condition: Pan28 - Primary ciliary dyskinesia (ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP221, CFAP298, CFAP300, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXJ1, GAS2L2, GAS8, HYDIN, LRRC6, LRRC56, MCIDAS, NEK10, NME5, NME8, OFD1, PIH1D3, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, […]Continue reading
WES and mutation detection rate: has something changed?
Whole exome sequencing (WES) is increasingly used in clinical practice, especially in pediatrics, to identify the cause in patients with a suspicion of genetic disease or for large studies whose purpose is to identify new disease genes. Thanks to technological advancement, lowering costs and reduction of the time required for diagnosis, massive sequencing has revolutionized […]Continue reading