Clinical Whole Genome Sequencing (WGS)
Technical Overview
High-quality, clinical-grade whole genome sequencing at 30X coverage depth. CAP/CLIA validated for clinical and medical research applications using Illumina PCR-Free DNA Prep automated on Hamilton STARs. The assay is validated as a technical genome.
Test Information:
- Deliverables: Analysis-ready Variant Call Files (VCFs) containing SNV's and InDels <50bp via AWS S3 download link, alignment/coverage metrics, optional FASTQ files (special setup required), custom API integration available. Additionally, optional research grade results can provided (Expansion repeats, PGx, SMN, HLA, Structural variants, CNV's)
- Platforms: Illumina NovaSeq X Plus and NovaSeq 6000
- Sample Types: Whole Blood and Buccal Swab (Mawi DNA 250)
- Turnaround Time: 10-14 business days (standard)
- Minimum Sample Size: 1 sample
- Applications: Clinical diagnostics, genetic disease research, comprehensive
genomic profiling, DTC with physician order
About the Service
Eurofins Genomics performs clinical-grade sequencing, powered by Illumina technology, for comprehensive genetic insights with incredible accuracy, enabling advanced clinical research and precision medicine applications. Clinical WGS provides a complete view of an individual’s genome, offering valuable insights into genetic predispositions, rare diseases, and inherited conditions. By sequencing the entire genome at high coverage, our service enables:
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Rare Disease Diagnosis – Identify causative variants for rare and undiagnosed genetic disorders.
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Hereditary Disease Screening – Detect inherited mutations that contribute to disease risk.
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Pharmacogenomics – Understand how genetic variations impact drug response and tailor treatments accordingly.
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Cancer Genomics – Analyze somatic and germline mutations for personalized oncology approaches.
Key Benefits
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High-Quality Sequencing – Leveraging Illumina's industry-leading platforms, we ensure exceptional accuracy and depth of coverage.
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Clinical-Grade Analysis – Our service includes robust bioinformatics pipelines and variant interpretation.
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Flexible Coverage Options – Choose from different sequencing depths based on your specific research or clinical needs.
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Fast Turnaround Time – Optimized workflows deliver results promptly to support time-sensitive applications.
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Regulatory Compliance – Our sequencing services adhere to stringent quality standards for clinical-grade data.
Whole Genome Sequencing is used in genetic research, personalized medicine, biopharmaceutical research, drug development, biomarker discovery, and within hospitals and clinical labs to support diagnostic and treatment decisions.
Get Started
Contact us today to learn more about our Clinical Whole Genome Sequencing services and how they can support your research and clinical applications.
Eurofins Clinical Enterprise and Eurofins Genomics
Eurofins Clinical Enterprise (CE) is the clinical arm of Eurofins Genomics. CE processes all clinical and non-clinical NGS samples for Eurofins Genomics in the United States. Samples, quotes, and results are managed through the CE group.