Genomic tools for diagnostic testing
Next-generation sequencing (NGS) and genomic tools play an important role in diagnostic testing. Advances in these technologies are revolutionizing the practice of medicine. These tools enable comprehensive and rapid analysis of patient genetic material for cancer and other disease diagnostics, as well as inform treatment decisions.1
Illumina genomic in vitro diagnostic (IVD) instruments and products empower clinical laboratories to discover solutions for improving patient outcomes. Our wide range of offerings, from novel NGS assays to robust instruments and accurate data analysis solutions, are built to withstand the rigor and precision of the IVD world.
NGS can quickly sequence thousands of genes or the whole genome.2 As such, NGS offers several advantages over traditional, more labor-intensive approaches such as Sanger sequencing, polymerase chain reaction (PCR) testing, fluorescence in situ hybridization (FISH), and single-gene assays. NGS technologies reduce turnaround times in labs by enabling simultaneous detection of multiple types of genetic alterations and the ability to pool samples during one sequencing run. In contrast to traditional molecular techniques, NGS has the potential for more specific, individualized, patient assessment.
Learn about the benefits of using NGS panels vs single-gene testing to guide treatment of non-small cell lung cancer patients (NSCLC) and the value of comprehensive genomic profiling (CGP) for accurate diagnosis and opportunities for precision medicine for patients.
Learn from an expert about clinical scenarios demonstrating the value of NGS for oncology biomarker testing of tissue and liquid specimens.
Hear from a panel of experts as they discuss challenges and practice gaps in precision medicine and the coordination of a multidisciplinary team to ensure optimal biomarker detection for more favorable patient outcomes.
Comprehensive genomic profiling (CGP)
Discover how a single assay can simultaneously assess multiple biomarkers in a multitude of tumor types, including relevant cancer biomarkers, as established in guidelines and clinical trials for therapy guidance.
Noninvasive prenatal testing (NIPT)
Learn more about genome-wide screenings for partial duplications, deletions, and aneuploidy status for autosomes, common chromosomal conditions, and sex chromosome abnormalities.
Learn how NGS technology facilitates the identification of disease-causing genetic variants.
Learn more about how early diagnosis and treatment of cystic fibrosis can improve both survival and quality of life.3 Explore how our NGS assays can provide genetic information that can be used to make informed family planning and optimized treatment decisions.
Learn how clinical laboratories can build targeted NGS IVD assays on Illumina Dx instruments, with flexible support for various content types, including fixed and custom panels.
TruSight Oncology Comprehensive solutions provide a streamlined CGP workflow starting with DNA or RNA and ending with clinically actionable results. All reagents and variant calling pipelines are extensively validated by Illumina, minimizing the time and effort of validating a new solution and simplifying the implementation process.
Illumina DNA Prep with Enrichment Dx supports a wide range of genomic DNA (gDNA) input amounts extracted from whole blood or formalin-fixed, paraffin-embedded (FFPE) tissue. When combined with the MiSeqDx, NextSeq 550Dx, or NovaSeq 6000Dx Instruments, Illumina DNA Prep with Enrichment Dx enables clinical laboratories to add targeted sequencing enrichment panels to their menu of diagnostic applications.
With easy-to-follow workflows and integrated software, Illumina IVD instruments are built to withstand the rigor and precision of the IVD world. Discover how clinical labs can run their own NGS tests and predefined gene panels, and explore a multitude of clinical research applications.
Whether you require IVD tests for comprehensive genomic profiling using DNA and RNA, or reagents, instruments, and software providing a comprehensive, in-lab NIPT IVD solution, our expansive offering of IVD solutions are designed, validated, and regulated for clinical use. Discover the benefits of our innovative DNA preparation and NGS sequencing reagent kits and generate the high-quality data that your work demands.
The most common molecular test is PCR due to its sensitivity, specificity, versatility, speed, and adaptability to amplify specific DNA and RNA sequences and enable the identification of pathogen or genetic mutations.4
Discover the benefits of NGS compared to traditional PCR technologies.
In addition to quickly sequencing large amounts of DNA and RNA, NGS platforms are critical for identifying pathogens, providing insights on the heterogeneity of tumors and cancer genomics, uncovering novel drug targets, and enabling genetic disease testing.5
Learn more about the applications and capabilities of Illumina NGS technology.
Genomic tools, such as NGS, are commonly used to identify mutations and conditions associated with numerous genetic disorders, including cystic fibrosis, Marfan syndrome, cardiovascular conditions, and neurodegenerative diseases to name a few.6
Talk to an expert to learn more about genomic tools for diagnostic testing.
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