Library Preparation Kits

Nextera DNA Flex Library Prep Kit

The Nextera DNA Flex Library Prep Kit offers flexibility for many whole-genome sequencing applications.  

Key features:

  • Fastest Illumina library prep workflow, with ~3.5 hours total time 
  • Flexibility to accommodate variations in sample type, DNA input amount, and application
  • Optimized library prep performance, generating reliable results

TruSeq Stranded Total RNA with Ribo-Zero Kits

TruSeq Stranded Total RNA provides a clear view of the transcriptome with a streamlined, cost-efficient, and scalable solution for total RNA analysis with sequencing.

Key features:

  • Compatible with a wide range of samples, including low-quality DNA/RNA and formalin-fixed, paraffin-embedded (FFPE) samples
  • Designed for human, mouse and rat sequences, but may be applicable to a variety of eukaryotic species.
  • TruSeq Stranded Total RNA Human/Mouse/Rat removes cytoplasmic rRNA 
  • TruSeq Stranded Total RNA Gold removes both cytoplasmic and mitochondrial rRNA 

Nextera DNA Exome

The Nextera Exome Kit delivers a simple, efficient method for high-confidence calling of exonic variants. This fast library preparation and exome enrichment workflow delivers libraries in less than 2 days with no need for additional equipment. 

Key features:

  • Enhanced transposome chemistry results in reduced bias, providing consistent library preparation and exome enrichment
  • Rapid, automation-friendly workflow completes in less than 2 days with only 3 hours of hands-on time
  • Proven Nextera data quality

Nextera Mate Pair Library Prep Kit

The Nextera Mate Pair Library Preparation Kit is an ideal approach for de novo sequencing, genome finishing, and the detection of structural variation. It is compatible with large DNA genomes- even the most complex genomes such as those derived from cancer.

Key features:

  • Sequence precious samples when only limited DNA is available
  • Generate highly diverse libraries with premier data quality
  • Prepare sequencing-ready libraries in less than two days

AmpliSeq for Illumina Focus Panel

The AmpliSeq for Illumina Focus Panel is a targeted resequencing assay for biomarker analysis of 52 genes with known relevance to solid tumors. Using the Focus Panel, researchers can analyze both DNA and RNA concurrently.

Key features:

  • Relevant Gene Content- Target biomarkers across 52 genes relevant to solid tumors
  • Fast, Streamlined Workflow- Prepare sequencing-ready libraries in a single day from as little as 1 ng of high quality or 10 ng of formalin-fixed, paraffin embedded (FFPE) input samplels
  • Accurate Data- Detect somatic mutations down to 5% of frequency using local or cloud-based analysis

AmpliSeq for Illumina BRCA Panel

The AmpliSeq for Illumina BRCA Panel is a targeted resequencing assay for research of somatic and germline variants across BRCA1 and BRCA2 genes. Key features include:

  • Relevant Gene Content- Target all exonic regions and flanking intronic sequences of BRCA1 and BRCA2
  • Fast, Streamlined Workflow- Prepare sequencing-ready libraries in a single day from as little as 1 ng of high quality or 10 ng of formalin-fixed, paraffin-embedded (FFPE) input samples
  • Accurate Data- Detect somatic mutations as low as 5% variant allele frequency using local or cloud based analysis

AmpliSeq for Illumina Myeloid Panel

The Myeloid Panel enables concurrent analysis of both DNA and RNA from blood and bone marrow samples in a single assay to study biomarkers associated with hematologic malignancies. The panel covers relevant targets for these major myeloid disorders: acute myeloid leukemia (AML), myeloid dysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), chronic myeloid leukemia (CML), chronic myelomonocytic leukemia (CMML), and juvenile myelomonocytic leukemia (JMML).

Key features include:

  • High-Value Content- Targets biomarkers across 69 genes including challenging targets such as CEBPA and FLT3-ITDs
  • Fast, Streamlined Workflow- Prepare sequencing-ready libraries in a single day from as little as 10 ng high quality DNA and RNA
  • Accurate Data- Detect somatic mutations down to 5% frequency using local or cloud-based analysis

TruSight Cancer

Developed in collaboration with cancer genomics experts, these predesigned, ready-to-use oligos enable researchers to sequence a variety of genes and single nucleotide polymorphisms (SNPs) previously linked to cancer predisposition.

  • Targets 94 genes and 284 SNPs associated with a predisposition towards cancer

TruSight Cancer includes genes associated with both common (e.g., breast, colorectal) and rare cancers. In addition, the set includes 284 SNPs found to correlate with cancer through genome-wide association studies (GWAS). Content selection was based on expert curation of the scientific literature and other high-quality resources.

The TruSight Cancer sequencing panel provides custom oligos targeting identified regions of interest. Sufficient product is supplied for four enrichment reactions.

TruSight Tumor 15

TruSight Tumor 15 uses next-generation sequencing (NGS) technology to provide a comprehensive assessment of 15 genes that are commonly mutated in solid tumors. It accurately detects low-frequency variants from 20 ng of starting DNA and is optimized for formalin-fixed, paraffin-embedded (FFPE) tumor tissue.

Featuring a rapid workflow that can be easily integrated into lab procedures, this panel offers a single assay for accurate, economical, and rapid analysis of solid tumors.

This TruSight Tumor panel offers:

  • Comprehensive workflow: Assess 15 genes with one simple workflow instead of single, iterative gene testing with polymerase chain reaction (PCR)
  • Efficient: Rapid turnaround with only 3.5 hours of hands-on time, going from DNA to data in approximately 36 hours
  • Relevant gene content for solid tumors: Somatic variants selected from relevant industry guidelines1,2, key opinion leaders3,4, and pharmaceutical research
  • Sensitive variant detection from low DNA input: Accurate somatic variant detection of 5% allele frequency using 20 ng DNA from FFPE tissue samples

TruSight Oncology 500

TruSight Oncology 500 is a next-generation sequencing (NGS) assay that enables Comprehensive Genomic Profiling of tumor samples. It supports identification of all relevant DNA and RNA* variants implicated in various tumor types.

In addition, it accurately measures the key immunotherapy biomarkers: tumor mutation burden (TMB) and microsatellite instability (MSI).

Save Time, Money, and Samples through assay Consolidation

  • Pan-cancer content aligned with key guidelines and clinical trials
  • DNA + RNA* assay targeting 523 genes for assessment of small variants, TMB, MSI, splice variants, and fusions
  • Identify relevant alterations while achieving highly accurate results

Achieve Highly Confident Results

  • Software filters artifacts for accurate variant calling
  • Enrichment chemistry inclusive of unique molecular indexes (UMIs) for high sensitivity in variant detection
  • Based on proven Illumina platform

Unlock Immuno-Oncology

  • Panel contains immuno-oncology biomarkers TMB and MSI
  • Tumor-only workflow for simplicity and efficiency
  • TMB calling performance similar to whole-exome sequencing (WES) panels
  • Large 1.94 Mb panel and sophisticated algorithm for accurate TMB score

* The product to evaluate DNA & RNA variants is the TSO500 DNA/RNA bundle.

TruSight One Sequencing Panels

TruSight One Sequencing Panels enable labs to expand and streamline their sequencing portfolio, while managing costs.

  • Two panels offer options to target up to 6700 genes associated with human disease, with high coverage
  • Single assay includes multiple genes of interest, replacing iterative testing
  • Easy, flexible gene filtering and annotation options simplify biological interpretation and reporting

TruSight Cardio Sequencing Kit

The TruSight Cardio kit uses next-generation sequencing (NGS) to provide comprehensive coverage of 174 genes with known associations to 17 ICCs, including cardiomyopathies, arrhythmias, aortopathies, and more. Genes were expertly selected with researchers at the National Heart Centre Singapore and Imperial College of London. Content include genes known to be associated with hereditary heart disease and emerging genes found in the literature.

Product Highlights:

  • Expertly defined genes selected in collaboration with the Imperial College of London
  • 99% of the targeted regions covered at a depth of at least 20x*
  • Cost to sequence is ~&1 US per gene; fully supported on Illumina sequencing and informatics platforms

VeriSeq PGS

The VeriSeq PGS Kit takes advantage of next-generation sequencing (NGS) technology to provide comprehensive, accurate screening of all 24 chromosomes for selection of embryos most likely to be euploid. Preimplantation genetic screening (PGS) results generated using VeriSeq PGS are comparable to those achieved with the widely used array-based 24sure technology. In addition, NGS offers the opportunity for improved assay workflow, higher throughput and enhanced performance

  • Industry-leading data quality- More than 90% of the world’s sequencing data is generated by Illumina sequencing by synthesis (SBS) chemistry
  • Fast, streamlined workflow- Sample to answer in approximately 12 hours
  • High-throughput analysis: Screen up to 24 samples per run

Solid Tumor Solution by SOPHiA GENETICS

The Solid Tumor Solution (STS) by SOPHiA GENETICS is a molecular diagnostic application that bundles the analytical power of SOPHiA AI with a capture-based target enrichment kit and full access to SOPHiA DDM platform.

The STS panel covers the coding regions and splicing junctions (±25 bp min) of 42 genes, associated but not limited to lung and colorectal cancers, melanoma and glioma. It guarantees superior coverage uniformity, high on-target reads percentage and exceptional coverage in GC-rich regions, even in the first exon.

Solid Tumor Plus Solution by SOPHiA GENETICS

Solid Tumor Plus (STS+) application targets DNA variants and RNA transcripts of fusion genes associated with solid tumors such as lung, colorectal, skin and brain cancers. The DNA panel covers 42 genes and the RNA fusion panel targets 137 gene fusions. The application also targets 6 unique loci to detect MSI status associated with colorectal cancer. Probe design is optimized to guarantee high on-target rate and coverage uniformity throughout the entire target regions.

Myeloid Solution™ by SOPHiA GENETICS

The Myeloid Solution panel covers complete coding sequence including ± 25 bp of exon-flanking regions of the 30 most relevant genes associated with Myelodysplastic Syndromes (MDS), Myeloproliferative Neoplasms (MPN) and Leukemia. Probe design is highly optimmized to provide exceptional  coverage uniformity throughout the entire target regions, resulting in superior data quality.

Myeloid Plus Solution by SOPHiA GENETICS

The Myeloid Plus Solution targets DNA variants and RNA transcripts of fusion genes, associated with but not limited to MDS, MPN and Leukemia. The DNA panel covers the coding regions and splicing junctions of 30 clinically relevant genes associated with hematological malignancies. It guarantees high on-target reads percentage and coverage uniformity even in GC-rich regions. The RNA fusion panel covers over 119 gene fusions.

Hereditary Cancer Solution by SOPHiA GENETICS

The Hereditary Cancer Solution by SOPHiA GENETICS is a comprehensive molecular diagnostic application enabling the detection of the most common germline variants associated with hereditary cancers. It assesses 26 genes in a single experiment by leveraging the unmatched analytical power of SOPHiA. As a result, this solution offers a streamlined and standardized workflow, that can be easily implemented by any healthcare institution.

SOPHiA Cardio Solution™

The SOPHiA Cardio Solution™ application covers the coding regions and splicing junctions (± 25 bp) of 31 most relevant genes (target region of 131 kb), associated with arrhythmias (e.g. Long/Short QT Syndrome or Brugada syndrome) and cardiomyopathies. Probe design is optimized to guarantee high on-target rate and coverage uniformity even in GC-rich regions, including the first exon.

SOPHiA Extended Cardio Solution™

The SOPHiA Extended Cardio Solution™ application covers the coding regions and splicing junctions (± 5 bp) of 128 most relevant genes (target region of 470 kb), associated with arrhythmias (e.g. Long/Short QT Syndrome or Brugada syndrome) and cardiomyopathies. Probe design is optimized to guarantee high on-target rate and coverage uniformity even in GC-rich regions, including the first exon.