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Genetic Health

Advancing Breakthroughs with Genomic Solutions in Genetic Health

Illumina technology is helping to advance breakthroughs in genetic health by facilitating identification of genetic disease-associated variants. 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 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 next-generation sequencing (NGS) and microarray technologies can help genetic disease researchers identify causative genetic variants and chromosomal aberrations, and may enable early discovery.

Rare and Undiagnosed Diseases

NGS technology can help scientists discover causative variants associated with rare genetic disorders.

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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 on developmental delay and various other disorders. 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

Featured Genetic Health Articles

Infants with Undiagnosed Disease
NGS Identifies Rare Disease Variants in Infants with Undiagnosed Disease

Landmark NGS study leads to a national clinical diagnostic exome sequencing platform in Singapore.

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A Message of Hope for the Rare Disease Community
A Message of Hope for the Rare Disease Community

Illumina recognizes the added challenges and increased burden COVID-19 adds to the lives of the rare disease community.

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Progress for Patients with Rare and Undiagnosed Genetic Diseases
Progress for Patients with Rare and Undiagnosed Genetic Diseases

The Blue Cross Blue Shield Association (BCBSA) technology review organization, known as Evidence Street®, issues review supporting whole-genome sequencing.

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Comprehensive Rare Variant Analysis

The TruSight Software Suite is designed to help high-throughput labs call, prioritize, and report on variants associated with rare disease—all from one software interface.

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Comprehensive Rare Variant Analysis

An in-depth conversation about the future of genomics with CNBC's Meg Tirrell.

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President and CEO, Francis deSouza Speaks at HLTH

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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Find More Genetic Disease-Related Content

The user-friendly "Recommended Links" feature allows you to easily find content and products relevant to genetic health and/or other specific fields of interest. You can access this option from the top of any illumina.com page.

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Explore Resources & Tools for New Users

We offer training and everything else for your workflow, from start to finish. From learning about our technology to making sense of your data, purchasing what you need, and getting support, we'll set you up for success.

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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.