Molecular Diagnostics

Accessing Genomics for Better Human Health

Advances in genetic analysis tools for molecular diagnostics are revolutionizing the practice of medicine, improving prenatal and reproductive care, enabling earlier disease detection, and advancing treatment of heritable disease. Novel assays based on next-generation sequencing and microarray technologies are being developed, helping us unlock the power of the genome. When laboratories begin to take advantage of these tools, we will see changes in health care in ways never before imagined, ultimately paving the way to improving human health.

NGS Resources for Pathologists

This document presents a collection of educational resources about applying NGS.

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Flexible Power for Molecular Diagnostics

Flexible Power for Molecular Diagnostics

The MiSeqDx instrument is the first FDA-regulated and CE-IVD-marked in vitro diagnostic (IVD) next-generation sequencing (NGS) system. Designed specifically for the clinical laboratory environment, the MiSeqDx instrument is a benchtop sequencer that incorporates an easy-to-follow workflow and an integrated software design to enable sample tracking, user traceability, and results interpretation.*

Built on Illumina sequencing by synthesis (SBS) chemistry, the MiSeqDx instrument provides accurate, reliable screening and diagnostic testing, providing the speed and accuracy to enrich human understanding of disease, enabling earlier detection and reducing the time to diagnosis. Illumina offers a growing menu of assays and kits enabling clinical laboratories to create and deploy NGS-based molecular diagnostic tests for cystic fibrosis, colorectal cancer, and a wide range of other applications.

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Cystic Fibrosis

Early diagnosis and treatment of cystic fibrosis can improve both survival and quality of life.1 However, current CF testing methods focus on CFTR variants most commonly found in Caucasians, potentially missing causative variants in other demographics.

To address these challenges, we offer TruSight Cystic Fibrosis, a consolidated next-generation sequencing solution for cystic fibrosis testing. This solution provides accurate results for an ethnically diverse population, eliminating demographic bias.

Learn More About Cystic Fibrosis Testing

IVD Assay Development

Take advantage of powerful NGS technology by building your own IVD assays with the MiSeqDx instrument and TruSeq Custom Amplicon Kit Dx. Together, the MiSeqDx instrument and TruSeq Custom Amplicon Kit Dx provide the accuracy and reliability needed to bring NGS into clinical labs. As a result, you can increase the number of molecular diagnostic applications available to your customers.

Learn More About Developing Your Own NGS IVD Assays

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*Detailed results reports are available for the TruSight Cystic Fibrosis 139-Variant Assay, the TruSight Cystic Fibrosis Clinical Sequencing Assay, and the Extended RAS Panel.

  1. Rock MJ, Levy H, Zaleski C, Farrell PM. Factors accounting for a missed diagnosis after newborn screening. Pediatr Pulmonol. 2011;46(12):1166–1174.