Tests evaluating predispositios to hereditary diseases and genetic background of various abnormalities have been more and more commonly used in clinical practice. They are requested by specialists who want to better understand the health status of their patients in order to plan appropriate preventive care or treatment. Thanks to next generation sequencing (NGS) it is possible to design personalised “tailor-made” diagnostic tests in each individual case. DNA tests performed with this technique are subject to international quality control. The INVICTA Genetics Laboratory has been consistently receiving the highest results in these external audits.
Monitoring of the quality of diagnostic tests performed with the next generation sequencing technique is currently performed jointly by EMQN (the European Molecular Genetic Quality Network) and UK NEQAS (United Kingdom National External Quality Assessment Service). Following the successful first pilot quality control assessment performed in 2014, a regular programme was initiated to verify the reliability and accuracy of NGS testing.
In 2015, as many as 236 laboratories from 40 countries worldwide declared their participation in the programme. The assessment included two stages. Each participating site received a DNA sample for analysis. The task was to test it according to standards in a given Laboratory for diagnostic tests performed with the next generation sequencing technique. At the same time, we were allowed to determine a type and scope of a test, as well as work methods according to our wishes – says Dr Sebastian Pukszta from the INVICTA Genetics Laboratory.
Ultimately, 211 sites presented their results for verification. The team at the INVICTA Genetics Laboratory decided to perform the tests based on the latest panel of 32 genes related to hormonal regulation and infertility. Apart from presenting test results, we provided an extensive description of our approach,, tools used, including software and data processing methods, as well as quality control monitoring methods – adds Dr Pukszta.
INVICTA has received the highest possible score and passed control for result accuracy and reliability of sequencing. We are proud that yet again we confirmed exemplary standards and quality of our tests. Thanks to competences of the entire team, consistent work on expanding of diagnostic possibilities and an innovative approach, we can offer patients and physicians diagnostic tests at the highest global level – concludes an expert at the INVICTA Genetics Laboratory.
The next generation sequencing (NGS) is currently the most advanced technique of DNA analysis. It is used as a reference method for other techniques used in genetic diagnostic tests.
The INVICTA Genetics Laboratory has been offering a wide range of genetic tests for over 10 years. The laboratory offers numerous panels of diagnostic tests targeted to detect predispositios to diseases or to diagnose reasons for various abnormalities, as well as targeted tests tailored to the needs of patients and their geneticists. The Laboratory Team conducts research projects and studies in order to develop new genetic diagnostic tests. Results of such projects have been published in numerous Polish and international scientific journals.