Applications - Clinical

Advancements in our understanding of genetics have the potential to change the practice of medicine and enable genomics-based healthcare. With streamlined workflows and advanced informatics, Illumina sequencing and array technologies and analysis services are allowing you to explore the genome more than ever before.

Molecular Diagnostics

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.


Cystic Fibrosis

Cystic fibrosis (CF) is a disease in which early detection and treatment can significantly improve the patient’s quality of life.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 the MiSeqDx Cystic Fibrosis System »


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 labsLearn 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 »


High-resolution, unambiguous human leukocyte antigen (HLA) typing with NGS enables researchers to interrogate more of the HLA region. The goal is to reduce the need for additional testing so donor recipients can benefit from more expedient matching.

Do you need advice
from an expert
Fill out the question
Fill out the name
Fill out the contact