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Event I June 10-13, 2023

The European Human Genetics Conference 2023 (ESHG)

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Download our scientific poster "IVDR performance studies demonstrate a sensitive and accurate aneuploidy test"




Sign-up to watch our symposium on the latest advancements in next-generation automated genetic testing for cystic fibrosis and familial hypercholesterolemia shared by our esteemed speakers Prof. Milan Macek and Silvia Borras.  


Next Generation Sequencing: Changing the game in CFTR analysis

This whitepaper is authored by Stewart Payne, Consultant Clinical Scientist at UK National Health Service and Head of Molecular Genetics in the North West Thames Regional Genetics since 1995. Stewart’s laboratory was one of few in the UK offering CFTR whole gene analysis by Sanger sequencing and has recently translated whole gene analysis to next generation sequencing.

  • How NGS enables routine screening of all published CFTR mutations.
  • Categories of CFTR mutations and interpretation of CFTR mutation data.
  • What the future holds for CFTR diagnostics and targeted therapies.

How can we help your lab?

Cost-effective solution
IVDR-certified test kits are often more cost-effective than alternative solutions, such as developing your own in-house LDTs. By choosing an IVDR-certified product, you can save time and resources while still receiving the highest-quality results.

Increased efficiency
IVDR-certified test kits are designed to be user-friendly and efficient, saving you time and resources in your laboratory operations and improving patient outcomes.

Compliance with regulations
With the implementation of the IVDR, buying IVDR-certified test kits is essential for compliance with European Union regulations. By purchasing from a trusted provider, you can be confident that you are meeting all the necessary requirements and avoiding costly penalties.

At the end of the day, it is all about ensuring safety and accuracy for patients.

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