The latest technologies used to analyse human genetic material offer almost limitless diagnostic possibilities. The next generation sequencing (NGS) allows obtaining large amount of data that can later be effectively used in clinical practice. Tests performed with this technique have to be especially precise and accurate with regard to details – and it is true for both procedures and personnel activities. Automation of selected processes that has been recently introduced by the INVICTA Genetics Laboratory helps ensure the high quality of results and limit the risk of diagnostic irregularities.
Using highly precise tools, we have optimised performance of DNA tests using NGS technology – says Dr Sebastian Pukszta from the INVICTA Genetics Laboratory. According to members of Dr Pukszta’s team this new tool significantly facilitates the precision demanding sample preparation stage. It provides repeatability of activities, limits the influence of human factor on process efficiency, and makes the process automated to a larger extent. Additionally, it offers a constant, high level of quality and limits the risk of errors.
However, that is not all. Thanks to this technology, we have maximized the amount of data obtained from one test. It indirectly results in reduced costs for patients, therefore makingthe specialist diagnostic tests more accessible – emphasizes Dr Pukszta. The idea of experts from INVICTA has been noticed by Eppendorf, manufacturer of the equipment used in this automation solution. It has been presented as an application note as a model for other centres.
The NGS technology has been widely used at the INVICTA Genetics Laboratory. It has been used for standard genetic diagnostic tests. Using new possibilities, we have introduced the Open Frame test platform that allows geneticians to design a targeted panel of tests “tailor-made” for the patient’s needs – adds Dr Pukszta. Next generation sequencing is also used in preimplantation genetic diagnosis (PGD). INVICTA was the first centre worldwide that has introduced this method to screen embryos into clinical practice.
Full content of the application note is available online at:
in the tab DOWNLOAD/DOCUMENTS FOR DOWNLOAD/Application 369.
in the Downloads section, Notes & Papers tab: . Application Note 369