Clinical Whole Genome Sequencing

Emerging clinical evidence shows Whole Genome Sequencing (WGS) is a powerful tool that helps geneticists and clinicians diagnose rare genetic diseases. By sequencing the entire human genome, both protein coding and non-coding regions, using WGS as a first-tier diagnostic test is a comprehensive solution to accurately detect most forms of clinically relevant variants for patients with a rare genetic disease. This minimises the need for costly and lengthy traditional testing and improves potential therapeutic solutions, especially for newborns and children. Using Illumina sequencing technologies and leveraging our extensive expertise in bioinformatics and clinical genomics, Novogene can identify disease-causing mutations within the human genome. Novogene UK Genomic Sequencing Centre is a UKAS accredited testing laboratory (laboratory number 20372) offers clinical WGS services under ISO 17025:2017 accreditation (schedule) as well as non-accredited services. and ensured by streamlined and standardised protocols, as well as strict quality controls throughout the process.