Genetic Disease

I seek answers. Genetic Disease.

Advanced genomics can further your understanding of gene abnormalities associated with genetic diseases, and ultimately improve human health. Illumina genetic technologies and informatics provide a broad view of the human genome. We help you discover and apply relevant genomic information to genetic disorders. Our microarray and next-generation sequencing systems offer flexibility regardless of throughput needs. Our simple workflows and industry-leading data quality will answer your genetic disease questions faster and more efficiently.

Rare Disease Variants

Whole-genome, whole-exome, and targeted NGS methods each offer distinct advantages in the search for causative rare disease variants. Learn more about NGS methods and products for rare disease variant detection »

Complex Disease Variants

With Illumina NGS technologies, researchers can study the polygenic traits, gene-gene interactions, and gene-environment interactions associated with complex genetic disorders, improving our understanding of the causes associated with these debilitating diseases. Learn more about genomic solutions for detecting complex disease genetic variants »

Mitochondrial Mutations

Whole-exome sequencing and targeted resequencing are ideally suited for mitochondrial research, enabling a closer look at regions of the mitochondrial and nuclear DNA where causative gene variants associated with mitochondrial regulation and function are found. Learn more about using NGS to detect mitochondrial mutations »

Chromosome Aberrations

Illumina's high-resolution chromosomal microarrays and next-generation sequencing technologies offer unique insight into constitutional genetic disorders. Learn more about methods for detecting chromosome aberrations »

Transform Your Research

Illumina Sequencing TechnologyIllumina Sequencing Technology

Illumina sequencing by synthesis technology is transforming disease research.
View Video »

NGS in Genetic Disease Studies

See how researchers use NGS technology to understand the biological underpinning of genetic disease.
Access PDF »

Sequencing Solutions

NGS can help find the underlying variant mechanisms(s) and provide insights into the genome, epigenome, and transcriptome.
Access PDF »

NextSeq 500 Desktop Sequencer


Rapidly detect disease variants by sequencing whole human genomes, exomes, and more.
View System »

Get help in choosing the right genetic disease research solution for you. Contact us »

For research use only.