Illumina technology is pioneering genetic disease research, helping to advance breakthroughs in genetic health. With the significant impact of genetic disease and rare disease conditions on individuals of all ages and families worldwide, our focus is to develop solutions to facilitate early detection and intervention. This can help improve outcomes, promotes enduring good health, and raises awareness about the importance of one’s genetic health.
Inherited genetic disorders affect more people than you may realize. Currently they collectively account for about 1 in 5 infant mortalities and approximately 18% of pediatric hospital admissions1 and an underlying genetic cause can be identified in up to 15–20% of children with developmental delay.2 For adults, 25% of sudden cardiac arrest is due to an inherited genetic condition.3,4 Our targeted gene panels, microarrays, and next-generation sequencing technologies can help genetic disease researchers identify causative genetic variants and chromosomal aberrations, and may enable early discovery.