When used in diagnostic mode on the NextSeq 550Dx, Illumina DNA Prep with Enrichment Dx supports user-supplied probe panels that meet the required specifications, including fixed and custom panels of varying sizes.
NextSeq 550Dx Instrument applications and methods
Supporting IVD testing and clinical research
Perform and develop diagnostic assays and fuel clinical research applications with sequencing and array scanning on one instrument
Key diagnostic applications
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
NextSeq 550Dx High Output Reagent Kit v2.5 (300 cycles)
Sequencing reagents offering a simplified workflow and high data quality for in vitro diagnostic (IVD) testing.
Analyze
Integrated-on instrument solution for creating a sequencing run, monitoring run status, analyzing sequencing data, and viewing results.
Illumina DNA Prep with Enrichment Dx App with DRAGEN Server for NextSeq 550Dx*
The DRAGEN server features an integrated Field Programmable Gate Array (FPGA) chip for accurate, ultrarapid next-generation sequencing (NGS) secondary data analysis with NextSeq 550Dx and a dedicated analysis module for Illumina DNA Prep with Enrichment Dx.
*Available only in select countries.
VeriSeq NIPT Solution v2 detects aneuploidies 21, 18, and 13, rare autosomal aneuploidies, sex chromosome aneuploidies, and partial duplications and deletions ≥7 Mb for all autosomes as part of a clinical prenatal screening solution run on the NextSeq 550Dx Instrument.
Library prep
A comprehensive in-lab NIPT IVD solution including reagents, instruments, and software for accurate aneuploidy screening results in 26 hours.
Sequence
NextSeq 550Dx High Output Reagent Kit v2.5 (75 cycles)
Sequencing reagents offering a simplified workflow and high data quality for in vitro diagnostic (IVD) testing.
Analyze
Integrated on-instrument data analysis solution available preinstalled on the VeriSeq Onsite Server v2.
United States
TruSight Oncology Comprehensive is a qualitative in vitro diagnostic test that uses targeted next-generation sequencing to detect variants in 517 genes using nucleic acids extracted from formalin-fixed, paraffin embedded (FFPE) tumor tissue samples from cancer patients with solid malignant neoplasms using the Illumina NextSeq 550Dx instrument. The test can be used to detect single nucleotide variants, multi-nucleotide variants, insertions, and deletions from DNA, and fusions in 24 genes and splice variants in one gene from RNA. The test also reports a Tumor Mutational Burden (TMB) score.
Library prep
TruSight Oncology Comprehensive
The first US FDA-approved distributable comprehensive genomic profiling (CGP) IVD with pan-cancer companion diagnostic (CDx) claims.
Sequence
NextSeq 550Dx High Output Reagent Kit v2.5 (300 cycles)
Sequencing reagents offering a simplified workflow and high data quality for in vitro diagnostic (IVD) testing.
Analyze
An integrated solution designed to create sequencing runs, monitor run status, analyze sequencing data, and view results.
European Union
TruSight Oncology Comprehensive (EU) is a CE-marked IVD comprehensive genomic profiling (CGP) test for analyzing multiple DNA and RNA variants plus biomarker signatures such as TMB and MSI across multiple cancer types. Indicated for use on the NextSeq 550Dx Instrument, TruSight Oncology Comprehensive (EU) consolidates multiple biomarkers into a single test and enables targeted therapies and clinical trials with actionable, easy-to-interpret results.
Library prep
TruSight Oncology Comprehensive (EU)
The first CE-marked IVD kitted solution for comprehensive genomic profiling (CGP) of DNA and RNA variants, plus MSI and TMB, for multiple solid tumor types.
Sequence
NextSeq 550Dx High Output Reagent Kit v2.5 (300 cycles)
Sequencing reagents offering a simplified workflow and high data quality for in vitro diagnostic (IVD) testing.
Analyze
TruSight Oncology Comprehensive HRD (DRAGEN)
Uses targeted NGS data to assess homologous recombination deficiency (HRD) from DNA extracted from FFPE ovarian tumor tissue.
Key research applications (in Research Mode)
The TruSight Tumor 170 workflow covers 170 genes associated with common solid tumors. It simultaneously analyzes DNA and RNA, covering a wide range of genes and variant types.
Prep
Comprehensive assay targeting DNA and RNA variants from the same FFPE tumor sample.
Assay targeting multiple variant types, including tumor mutational burden (TMB) and microsatellite instability (MSI), even from low-quality samples.
Sequence
NextSeq 500/550 v2.5 Reagent Kits
Ready-to-use reagent kits include the reagent cartridge, flow cell, and buffer. Multiple sequencing output and read length options available.
Analyze
TruSight Tumor 170 BaseSpace app
Analysis of reads from DNA and RNA libraries prepared using the TruSight Tumor 170 panel.
Investigate the protein-coding regions of the genome to uncover genetic influences on disease and population health.
Prep
Illumina DNA Prep with Exome 2.5 Enrichment
A high-performance, fast, and reliable human whole-exome sequencing solution that includes a comprehensive, up-to-date exome enrichment panel.
Sequence
NextSeq 500/550 v2.5 Reagent Kits
Ready-to-use reagent kits include the reagent cartridge, flow cell, and buffer. Multiple sequencing output and read length options available.
Analyze
Variant analysis for target regions performed with BWA Genome Alignment Software and GATK Variant Caller.
Rapid alignment and variant detection tool using the Isaac Aligner.
Comprehensively target disease-associated regions of the exome with high analytical sensitivity and specificity.
Prep
Sequence
NextSeq 500/550 v2.5 Reagent Kit
Ready-to-use reagent kits include the reagent cartridge, flow cell, and buffer. Multiple sequencing output and read length options available.
Analyze
Variant analysis for target regions performed with BWA Genome Alignment Software and GATK Variant Caller.
Rapid alignment and variant detection tool using the Isaac Aligner.
Our variant annotation and analysis software tools can help researchers extract and report biological insights from large volumes of genomic data.
Intended Use for the NextSeq 550Dx instrument
United States:
The NextSeq 550Dx 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 (IVD) diagnostic assays. The NextSeq 550Dx instrument is not intended for whole genome or de novo sequencing. The NextSeq 550Dx instrument is to be used with specific registered, certified, or approved in vitro diagnostic reagents and analytical software.
European Union:
The NextSeq 550Dx instrument is intended for sequencing of DNA libraries when used with in vitro diagnostic assays. The NextSeq 550Dx instrument is to be used with specific registered, certified, or approved in vitro diagnostic reagents and analytical software.