Illumina FDA-cleared and validated next-generation sequencing (NGS) assays for cystic fibrosis testing empower clinicians to screen for known cystic fibrosis transmembrane conductance regulator (CFTR) gene variants before interrogating the gene for novel mutations.
MiSeqDx Instrument applications and methods
Expand your possibilities
Powerful benchtop sequencing system for development of in vitro diagnostic assays and clinical research
Key diagnostic applications
Library prep
FDA-cleared, CE-marked IVD next-generation sequencing (NGS) test that conveniently provides two cystic fibrosis assays in one product.
Sequence
A validated, FDA-regulated, CE-marked IVD sequencing kit containing prefilled, ready-to-use reagent cartridges for cluster generation and sequencing to support one run of one or more sample libraries on the MiSeqDx Instrument.
A validated, FDA-regulated, CE-marked IVD sequencing kit containing prefilled, ready-to-use reagent cartridges for cluster generation and sequencing to support one run of 24–36 samples on the MiSeqDx Instrument using the TruSight Cystic Fibrosis assay.
Analyze
On-instrument software for creating sequencing runs, monitoring run status, and analyzing data.
Cystic fibrosis assays can be run using the associated Local Run Manager software analysis modules.
Illumina DNA Prep with Enrichment Dx allows clinical laboratories to develop their own NGS assays targeting specific regions of interest using custom oligonucleotide probes.
Library prep
Illumina DNA Prep with Enrichment Dx
An FDA-regulated and IVDR-compliant library preparation and enrichment solution for in vitro diagnostic (IVD) targeted sequencing applications.
Sequence
A validated, FDA-regulated, CE-marked IVD sequencing kit containing prefilled, ready-to-use reagent cartridges for cluster generation and sequencing to support one run of one or more sample libraries on the MiSeqDx Instrument.
Analyze
Local Run Manager
On-instrument software for creating sequencing runs, monitoring run status, and analyzing data.
Illumina DNA Prep with Enrichment Dx can be run using the associated Local Run Manager software analysis modules.
Key clinical research applications (in research mode)
Illumina sequencing facilitates clinical cancer research by providing expert-defined gene content, accurate data, and simple analysis and reporting options. Select from a variety of Illumina and third-party kits that help easily and quickly identify variants in virtually any type of cancer, including solid tumors and hematological malignancies.
Library prep
TruSight Hereditary Cancer Panel
Targeted sequencing panel that assesses germline mutations across 113 genes and 125 SNPs associated with genetic cancer risk predisposition.
Pillar oncoReveal Myeloid Panel
Robust assay for the detection of SNPs, deletions, insertions, and internal tandem duplications in 58 genes relevant to myeloid cancers.
Pillar oncoReveal Multi-Cancer with CNV & RNA Fusion Panel
A combined DNA and RNA multi-cancer panel for detection of SNVs, small and medium indels, CNVs, and 11 fusion genes.
Sequence
MiSeq Reagent Kit v3 (600 cycles)
Prefilled, ready-to-use cartridges containing clustering and sequencing reagents to support a 600-cycle run on the MiSeqDx Instrument in RUO Mode.
Analyze
Local Run Manager (RNA Fusion Module)
An on-premises software solution for creating sequencing runs, monitoring run status, and analyzing data.
BaseSpace RNA-Seq Alignment App
Aligns RNA-Seq reads, quantifies gene expression, and calls small variants and gene fusions.
Next-generation sequencing secondary analysis of DNA and RNA amplicons, including alignment, variant calling, quantification, and fusion detection.
NGS provides powerful and comprehensive solutions for infectious disease detection and characterization. Using Illumina kits and assays, clinical labs can take a deeper look into viruses, bacteria, fungi, and parasites that affect human health.
Library prep
Respiratory Pathogen ID/AMR Enrichment Panel Kit
Panel targeting > 280 respiratory pathogens, including SARS-CoV-2, and > 2K antimicrobial resistance alleles, with data analysis powered by Explify RPIP.
Urinary Pathogen ID/AMR Enrichment Kit
Panel targeting 174 urinary pathogens and > 3700 genes and gene variants associated with antimicrobial resistance.
Assay to identify and track the emergence and prevalence of novel SARS-CoV-2 variants.
Sequence
MiSeq Reagent Kit v2 (300 cycles)
Prefilled, ready-to-use cartridges containing clustering and sequencing reagents to support a 300-cycle run on the MiSeqDx Instrument in RUO Mode.
Analyze
BaseSpace Explify RPIP Data Analysis
Dedicated informatics solution for the Respiratory Pathogen ID/AMR Enrichment Kit.
BaseSpace Explify UPIP Data Analysis
Dedicated informatics solution for the Urinary Pathogen ID/AMR Enrichment Kit.
Aligns reads, calls variants, and applies high-confidence variants to SARS-CoV-2, MPXV, and avian H5N1 influenza reference genomes.
Intended use for the MiSeqDx Instrument
United States:
The MiSeqDx Instrument is intended for targeted sequencing of DNA libraries from human genomic DNA extracted from peripheral whole blood, formalin-fixed, paraffin-embedded (FFPE) tissue, or embryonic tissue, when used with in vitro diagnostic (IVD) assays performed on the instrument. The MiSeqDx Instrument is not intended for whole genome or de novo sequencing. The MiSeqDx Instrument is to be used with registered and listed, cleared, or approved IVD reagents and analytical software.
European Union/other:
The MiSeqDx Instrument is intended for targeted sequencing of DNA libraries from human genomic DNA extracted from peripheral whole blood or formalin-fixed, paraffin-embedded (FFPE) tissue, when used with in vitro diagnostic (IVD) assays performed on the instrument. The MiSeqDx Instrument is not intended for whole genome or de novo sequencing. The MiSeqDx Instrument is to be used with registered and listed, cleared, or approved IVD reagents and analytical software.