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Clinical Whole Genome Sequencing

Harness the power of next generation sequencing with Novogene’s Clinical Whole Genome Sequencing service to support patient care and explore therapeutic options.

What is Clinical WGS?

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.

Advantages of Clinical Whole Genome Sequencing with Novogene

  • Quality Management – System that meets the requirement of national and international standards, including ISO 17025:2017 and that complies with GCLP requirements.
  • High-quality –Data covers whole human genomes to report SNPs, InDels, SVs, and CNVs
  • High Capacity – Industry-leading turnaround time

Clinical Whole Genome Sequencing Highlights

    • ISO17025-accredited whole genome sequencing(schedule)
    • Accurate variant calling (up to 99%) at sequence coverage of 30X +/-2
    • Publication-ready results and bioinformatic experts to assist.


Sample Requirements

Sample Type Amount Volume Concentration Description Collection Tube Recommended
Genomic DNA ≥ 200 ng ≥ 10 ng/µl • No degradation
• No contamination
• No colour
• No viscosity
• No extra bands
1.5 ml or 2 ml microcentrifuge tube
Whole blood ≥ 2 ml 3-5ml recommended K2EDTA tube or ACD (yellow-top) tube
Paediatric sample – EDTA (purple-top) tube
Buccal swab ≥ 2 tubes Mawi iSWAB
DNA collection kit
Isohelix RD-01
Buccal swab
with RapiDri Pouch
Isohelix SK-2S Buccal swab
Saliva ≥ 2 ml Oragene® OG-500 collecting tube

Sequencing & Analysis

Service Type Sequencing platform Sequencing strategy Coverage recommended Standard analysis
Illumina NovaSeq 6000
Paired-end 150bp
•> 30X for frequent variant detection
•> 40X for low frequency variant detection
• Data quality control
• Alignment to reference genome
• Variant calling
• Annotation