Seek flexibility. Explore new ways to improve human health with the MiSeqDx System.

Molecular Diagnostics

Accessing genomics for better human health

Advancements in genetic analysis 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 healthcare in ways never before imagined. Ultimately, paving the way to improving human health.

The Flexible Diagnostic Power of MiSeqDx System

The MiSeqDx instrument is the first FDA-cleared in vitro diagnostic (IVD) next-generation sequencing (NGS) system. Designed specifically for the clinical laboratory environment, the MiSeqDx instrument is a desktop sequencer that incorporates an easy-to-follow workflow and an integrated software design to enable sample tracking, user traceability, and results interpretation.* Built on proven 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 provides a growing menu of assays and kits enabling clinical laboratories to create and deploy NGS-based molecular diagnostic tests, including cystic fibrosis and a wide range of other applications. Learn more >>

*Detailed results reports are available for the MiSeqDx Cystic Fibrosis 139-Variant Assay and the MiSeqDx Cystic Fibrosis Clinical Sequencing Assay.

Cystic Fibrosis

Cystic fibrosis (CF) is a disease in which early detection and treatment can significantly improve the patient’s quality of life. See more of the data that matters with the MiSeqDx System, the first in vitro diagnostic (IVD) next-generation sequencing (NGS) platform for accurate, comprehensive CF testing. The system includes the MiSeqDx instrument and two assays: the Cystic Fibrosis 139-Variant Assay that detects 139 clinically relevant CFTR variants and the Cystic Fibrosis Clinical Sequencing Assay that accurately captures all variants in the protein coding regions and intron/exon boundaries of CFTR.

Learn more about Cystic Fibrosis »

IVD Assay Development

Take advantage of powerful NGS technology in building your own IVD assays with the MiSeqDx instrument and MiSeqDx Universal Kit. Together, the MiSeqDx instrument and Universal Kit 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 for your customers.

Learn more about developing your own NGS IVD assays »


The American College of Medical Genetics (ACMG) currently recommends the use of microarrays as the first-tier diagnostic test in postnatal cytogenetics for detecting copy number variants (CNVs) associated with intellectual disability, developmental delay, and dysmorphic features. Illumina SNP array technology combines genotype and intensity information to detect chromosomal aberrations, enabling profiling of copy number and copy-neutral events. Additionally, the arrays can identify mosaicism and other factors that can elude standard cytogenetic analysis methods.

Learn more about clinical cytogenetics »

Reimbursement and Coding

Reimbursement coding for clinical laboratories performing molecular diagnostic tests have recently changed. The new Molecular Pathology (MoPath) codes now reflect the purpose of the test instead of the methods used. In addition, new MoPath codes specific for NGS tests have been proposed. In this section, we discuss how these changes affect reimbursement for molecular diagnostic services moving forward.

Learn more about new MoPath codes and their impact »



NGS Resources for Pathologist

This document presents a collection of educational resources about applying NGS.
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Webinar: Molecular Pathology Reimbursement in 2013–2014

Molecular Pathology Reimbursement in 2013

Understand the 114 new MoPath codes implemented in 2013 and their implications for 2014.

View the webinar »