WG-CGP - 3) Clinical Validation of a NGS assay

Click on the links to access the related webpages
 

a. Manuscripts delineating best practices

• Tsongalis GJ, Al Turkmani MR, Suriawinata M, et al. Comparison of Tissue Molecular Biomarker Testing Turnaround Times and Concordance Between Standard of Care and the Biocartis Idylla Platform in Patients With Colorectal Cancer. Am J Clin Pathol. 2020;154(2):266-276.
• Al-Turkmani MR, Suriawinata MA, Deharvengt SJ, et al. Rapid EGFR mutation testing in lung cancer tissue samples using a fully automated system and single-use cartridge. Pract Lab Med. 2020;20:e00156.
• Williams HL, Walsh K, Diamond A, Oniscu A, Deans ZC. Validation of the Oncomine^™ focus panel for next-generation sequencing of clinical tumour samples. Virchows Arch. 2018;473(4):489-503.
• Santani A, Simen BB, Briggs M, et al. Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical Laboratories. J Mol Diagn. 2019;21(3):369-374

b. Tools to determine assay performance

Reference materials

• https://www.atcc.org/
• https://www.phe-culturecollections.org.uk/collections/ecacc.aspx
• https://www.dsmz.de/
• https://www.who.int/bloodproducts/ref_materials/en/
• https://www.nist.gov/programs-projects/genome-bottle
• https://horizondiscovery.com/en/navigation/molecular-diagnostics/Analysis-technique
• https://www.seracare.com/

End to end solutions

• Genexus