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Genetic Health

Advancing Breakthroughs with Genomic Solutions in Genetic Health

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.

Rare and Undiagnosed Disease Research

Illumina offers genetic research products for rare and undiagnosed diseases through our targeted sequencing panels and cytogenetic analysis tools.
TruSight One

A targeted NGS gene panel for genetic disease research, including 4813 genes associated with rare diseases.

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Human CytoSNP-12 and CytoSNP-850k

Cytogenetic microarrays for genetic disease research of rare and undiagnosed diseases, such as in the case of developmental delay. Designed to detect chromosomal aberrations associated with complex phenotypes.

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Medical Genome Initiative

This consortium of leading institutions is working to expand access to clinical whole genome sequencing (cWGS) for the diagnosis of genetic disease.

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“Arrays such as the CytoSNP-850K BeadChip have enabled us to discover phenotype links in a high fraction of samples and have been of huge advantage in research, leading to an explosion in our knowledge about the genetic basis of cancer and other diseases.” – Dr. Trilochan Sahoo

Inherited Disease Research

Illumina offers targeted sequencing research panels and cystic fibrosis testing for inherited diseases.
TruSight Inherited Diseases

A targeted gene panel for genetic disease research, including 552 genes associated with genotypes related to severe recessive childhood onset diseases.

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TruSight Cardio

A targeted gene panel for genetic disease research, including 174 genes associated with 17 inherited cardiac conditions.

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Cystic Fibrosis Testing

The most comprehensive commercially available panels for detection of causative and clinically relevant variants for cystic fibrosis.

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  1. Kingsmore S. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases. PLoS Curr. 2012; e4f9877ab8ffa9.
  2. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010: 86(5): 749-764.
  3. Deo R, Albert CM. Epidemiology and genetics of sudden cardiac death. Circulation. 2012;125(4):620-637.
  4. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Europace. 2001;13(8):1077-1109.