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Rare Diseases
Rare and undiagnosed diseases often involve complex genetic mechanisms that remain hidden in traditional testing approaches. Variants such as CNVs, deep intronic mutations, structural rearrangements, or ultra-rare single nucleotide changes can easily be missed delaying diagnosis and treatment.
With Illumina’s robust next-generation sequencing (NGS) solutions, these genomic changes can now be detected accurately, efficiently, and at scale. Whether you're working with suspected monogenic conditions, unexplained developmental delay, or undiagnosed syndromes, Illumina offers flexible tools to move from clinical suspicion to molecular diagnosis.
WES or WGS: Find the Right Fit
Whole Genome Sequencing
Whole Exome Sequencing
Whole Genome Sequencing (WGS)
A comprehensive approach to uncovering all variant types across the entire genome.
- Captures coding and non-coding regions, including promoters, introns, UTRs, enhancers, and intergenic sequences.
- Detects single nucleotide variants (SNVs), indels, copy number variants (CNVs), structural variants (SVs), and repeat expansions
- Essential for cases where exome sequencing is inconclusive, or where non-coding mutations, structural rearrangements, or regulatory changes are suspected
- Preferred in neonatal and pediatric intensive care, multi-systemic syndromes, or prenatal diagnostics requiring fast and broad insight
Powered by the Illumina DNA PCR-Free Prep Kit:
- Ideal for WGS applications requiring high data quality and low bias
- Eliminates PCR amplification, reducing duplication rates and false positives
- Ensures excellent performance across GC-rich or repetitive regions
- Compatible with both short-read platforms like NovaSeq™ X Plus and cloud/onboard analysis via DRAGEN™ pipelines
- Scalable from single-sample to population-level studies
High Coverage Uniformity
Genetic Research
Entire Genome
Illumina DNA PCR-Free provides uniform coverage across a range of GC content in the human genome.
Whole Exome Sequencing (WES)
A broad and efficient approach targeting all protein-coding regions of the genome.
- Interrogates ~20,000 exons (~1–2% of the genome), where ~85% of known pathogenic variants are found
- Ideal for cases with ambiguous or overlapping phenotypes, multiple differential diagnoses, or suspected Mendelian disorders.
- Supports trio-based analysis to detect de novo or compound heterozygous mutations
Powered by the Illumina DNA Prep with Exome Enrichment kit:
- Fast, automation-friendly 2-day workflow
- Highly uniform coverage and low duplication rates
- Compatible with a wide range of input amounts and sample types
- Supports both germline and somatic variant detection
- Optional mitochondrial DNA (mtDNA) sequencing integrated into the workflow, ideal for neuromuscular or metabolic disorder evaluation.
Low Cost
Disease Screening and Diagnosis
%2 of genome
Comprehensive coverage of disease-associated variants in public databases
