TruSight Inherited Disease

Focusing on severe, recessive pediatric onset diseases.

  • Developed in collaboration with Dr. Stephen Kingsmore and team at Children's Mercy Hospital (CMH) for Pediatric Genomic Medicine, Dr. Carol Saunders at CMH, and Dr. Hilger Ropers at the Max Planck Institute
  • Targets 552 genes, including coding exons, intron-exon boundaries, and regions known to harbor pathogenic mutations 

TruSight Inherited Disease was initially based on a 448 disease panel designed for preconception carrier testing for severe, recessive childhood diseases published by Dr. Kingsmore and team in Science Translational Medicine1. The original content was revised by Dr. Saunders, FACMG, at CMH (following ACMG guidelines for testing ultra-rare genetic diseases) to reflect the needs of medical geneticists with a primary focus on severe recessive diseases with childhood onset. Intellectual disability genes were added by Dr. Ropers.

The TruSight Inherited Disease sequencing panel set includes custom oligos targeting identified regions of interest. Sufficient product is supplied for four enrichment reactions. TruSight Inherited Disease is compatible with TruSight Rapid Capture and is supported on the MiSeq, NextSeq, and HiSeq sequencing systems.

For Research Use Only.

References

  1. Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, et al. (2012) Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med. 4: 154ra135.  

Note regarding biomarker patents and other patents unique to specific uses of products:
Some genomic variants, including some nucleic acid sequences, and their use in specific applications may be protected by patents. Customers are advised to determine whether they are required to obtain licenses from the party that owns or controls such patents in order to use the product in customer's specific application.

Catalog IDs: FC-121-0205

Description Document Type File Info
16S Metagenomics Studies with the MiSeq System Application Note PDF(< 1 MB)
24sure Microarray Pack Product Information Sheet Product Information Sheet PDF(< 1 MB)
24sure Microarrays Data Sheet PDF(< 1 MB)
24sure+ Microarray Pack Product Information Sheet Product Information Sheet PDF(< 1 MB)
A Patient-Centric CNV Pipeline Technical Note PDF(< 1 MB)
A Patient-Centric Methylation Pipeline Application Note PDF(1 MB)
Absolute Quantification of Gene Expression using SYBR Green in the Eco Real-Time PCR System Tech Note Technical Note PDF(1 MB)
Accurate IGN Cancer Sequencing with a Combined Calling Method Technical Note PDF(< 1 MB)
Accurate Multiplex Cytokine Assay Developed with VeraCode Technology White Paper PDF(< 1 MB)
African American Admixture Panel Data Sheet PDF(< 1 MB)
Ag Consortia Frequenly Asked Questions FAQ Document PDF(< 1 MB)
Amplicon - DS Somatic Variant Caller Technical Note PDF(< 1 MB)
An Introduction to Next-Generation Sequencing Technology Technical Note PDF(2 MB)
An Introduction to Next-Generation Sequencing for Cell Biologists Application Note PDF(1 MB)
Analyzing FFPE Samples with Infinium Microarrays Technical Note Technical Note PDF(< 1 MB)
Analyzing GoldenGate Genotyping Data Tech Note Technical Note PDF(< 1 MB)
Array Differences in Genomic Coverage and Data Quality Impact GWAS Success White Paper PDF(< 1 MB)
AutoSeq G50 Columns and Tubes Product Information Sheet Product Information Sheet PDF(< 1 MB)
Base Space Analysis Environment Data Sheet Data Sheet PDF(< 1 MB)
BaseSpace Onsite Datasheet Data Sheet PDF(2 MB)
BaseSpace data security Technical Note PDF(< 1 MB)
BeadXpress System Data Sheet PDF(< 1 MB)
BlueFish Probes Product Information Sheet Product Information Sheet PDF(< 1 MB)
BlueFuse™ Multi Analysis Software for Molecular Cytogenetics Data Sheet PDF(< 1 MB)
BlueFuse™ Multi Analysis Software for Preimplantation Genetic Diagnosis Data Sheet PDF(1 MB)
BlueFuse™ Multi Analysis Software for Preimplantation Genetic Screening Data Sheet PDF(< 1 MB)
Bovine3K BeadChip Data Sheet Data Sheet PDF(< 1 MB)
BovineHD BeadChip Data Sheet Data Sheet PDF(< 1 MB)
BovineLD v2.0 Data Sheet Data Sheet PDF(< 1 MB)
BovineLD v2.0 FAQ FAQ Document PDF(< 1 MB)
BovineLD v2.0 Product Information Sheet Data Sheet PDF(< 1 MB)
BovineSNP50 Genotyping BeadChip Data Sheet PDF(< 1 MB)
Brief Scanning Guide Technical Note Technical Note PDF(< 1 MB)
COT Human DNA Product Information Sheet Product Information Sheet PDF(< 1 MB)
Calculating Percent Passing Filter for Patterned and Non-Patterned Flow Cells Technical Note PDF(< 1 MB)
Cancer Discovery Initiative Flyer Brochure PDF(< 1 MB)
Cancer Research Review presentations PDF(16 MB)
CanineHD Data Sheet Data Sheet PDF(< 1 MB)
Capture of the Canine Exome Using the Nextera Exome Enrichment Kit Application Note PDF(< 1 MB)
ChIP-Seq Data Analysis Tech Note Technical Note PDF(< 1 MB)
ChIP-Seq Profiling of Estrogen Receptor Alpha Binding Sites Using the Illumina Genome Analyzer Application Note PDF(< 1 MB)
ClearHyb Product Information Sheet Product Information Sheet PDF(< 1 MB)
ClearPack Lite Product Information Sheet Product Information Sheet PDF(< 1 MB)
Comparison of TruSeq Library Preparation Kits Technical Note PDF(< 1 MB)
Comprehensive and User-Friendly Analysis of Illumina Sequencing Data Technical Note PDF(< 1 MB)
Configuring Virus Scanner Software on Illumina Sequencers Technical Note PDF(< 1 MB)
Considerations for Designing a Successful TruSeq Targeted RNA Expression Experiment Technical Note PDF(< 1 MB)
Consistent Assay Performance Across Universal Arrays and Scanners Technical Note PDF(< 1 MB)
Coverage Calculation Tech Note Technical Note PDF(< 1 MB)
CpG Loci Identification Technical Note PDF(< 1 MB)
Creating TruSeq Custom Amplicon Designs with DesignStudio FAQ Technical Note PDF(< 1 MB)
Custom Genotyping Data Sheet PDF(< 1 MB)
Customer Site Training for Karyomapping Data Sheet Data Sheet PDF(< 1 MB)
Cystic Fibrosis Fact Sheet Data Sheet PDF(< 1 MB)
CytoChip Algorithm Summary Technical Note Technical Note PDF(< 1 MB)
CytoChip Focus Constitutional Pack Product Information Sheet Product Information Sheet PDF(< 1 MB)
CytoChip Oligo Algorithms Technical Note Technical Note PDF(< 1 MB)
CytoChip Oligo Pack Product Information Sheet Product Information Sheet PDF(< 1 MB)
CytoChip Oligo SNP Microarray Product Information Sheet Product Information Sheet PDF(< 1 MB)
CytoChip Oligo Spike-in Controls Product Information Sheet Product Information Sheet PDF(< 1 MB)
CytoChip Quality Control Summary Technical Note Technical Note PDF(< 1 MB)
Cytogenetics into Cytogenomics: SNP Arrays Expand the Screening Capabilities of Genetics Laboratories Application Note PDF(< 1 MB)
DNA Copy Number Analysis Algorithms Technical Note PDF(< 1 MB)
DNA-Seq Data Processing Technical Note PDF(< 1 MB)
Data Analysis: ChIP-Seq Technical Note PDF(< 1 MB)
Data Analysis: DNA Methylation Technical Note PDF(< 1 MB)
Data Analysis: GWAS Processing Technical Note PDF(< 1 MB)
Data Analysis: Microarray Gene Expression Technical Note PDF(< 1 MB)
Data Correlation Details: Enrichment Analysis Technical Note PDF(1 MB)
Data Processing of Nextera Mate Pair Reads on Illumina Sequencing Platforms Tech Note Data Sheet PDF(1 MB)
De Novo Assembly of Bacterial Genomes Application Note Application Note PDF(< 1 MB)
De Novo Assembly with the Genome Analyzer Technical Note PDF(< 1 MB)
De novo assembly using GA reads for an e-coli genome Technical Note PDF(< 1 MB)
Designing Custom GoldenGate Methylation Panels Technical Note PDF(< 1 MB)
Designing and Ordering iSelect HD Custom Genotyping Assays Technical Note PDF(< 1 MB)
E. coli De Novo Assembly on the MiSeq System and HiSeq System Technical Note PDF(< 1 MB)
E. coli Sequencing on the MiSeq System and Ion Torrent PGM System Application Note PDF(< 1 MB)
Eco Real-Time PCR System Brochure Brochure PDF(3 MB)
Eco Real-Time PCR System Data Sheet Data Sheet PDF(< 1 MB)
Eco Real-Time PCR System Funding Support Package Technical Note PDF(< 1 MB)
Eco Thermal and Optical Systems Deliver High Precision Technical Note PDF(< 1 MB)
Empowering GWAS Tech Note Technical Note PDF(< 1 MB)
Expression Analysis of FFPE Samples Technical Note Technical Note PDF(1 MB)
FFPE DNA Restoration Solution Data Sheet Data Sheet PDF(< 1 MB)
FastTrack Microarray Services Sample Submission Guidelines Technical Note PDF(< 1 MB)
Flexible MiSeq System Supports a Broad Range of Agrigenomics Applications Application Note PDF(< 1 MB)
Fluorescent Labeling System [dCTP] Product Information Sheet Product Information Sheet PDF(< 1 MB)
Fluorescent Labeling System [dUTP] Product Information Sheet Product Information Sheet PDF(< 1 MB)
ForenSeq DNA Signature Prep Kit Data Sheet PDF(< 1 MB)
GenVault: Genotyping Recovered DNA White Paper PDF(< 1 MB)
Gene Expression Analysis Data Sheet Data Sheet PDF(< 1 MB)
Gene Expression Microarray Data Quality Control Technical Note PDF(< 1 MB)
Generating Sequencing Libraries from FFPE Samples White Paper (PDF) White Paper PDF(< 1 MB)
Genetic Disease Review White Paper PDF(3 MB)
Geneus Lab and Data Management for Illumina Sequencing Data Sheet PDF(< 1 MB)
GenoLogics LIMS data sheet Data Sheet PDF(< 1 MB)
Genome Analyzer Brochure Brochure PDF(2 MB)
Genome AnalyzerIIX System Data Sheet PDF(< 1 MB)
GenomeStudio Data Analysis Software Data Sheet PDF(< 1 MB)
Genomic Selection: A Paradigm Shift in Animal Breeding Technical Note PDF(< 1 MB)
Genomic Sequencing Data Sheet PDF(< 1 MB)
Genotype Imputation Enables Powerful Combined Analyses of Genome-Wide Association Studies. Contributed by Dr. Jeffrey C. Barrett, Group Leader, Wellcome Trust Sanger Institute. Application Note PDF(< 1 MB)
Genotyping Rare Variants Tech Note Technical Note PDF(< 1 MB)
Getting Started with RNA-Seq Data Analysis Data Sheet PDF(< 1 MB)
GoldenGate Genotyping with VeraCode Technology Technical Note PDF(< 1 MB)
GoldenGate Indexing Assay Increases Sample Throughput Data Sheet PDF(< 1 MB)
Guidelines for Handling Embryo Biopsy Samples Technical Note Technical Note PDF(< 1 MB)
HiScan and iScan Systems Data Sheet Data Sheet PDF(< 1 MB)
HiScanSQ Product Brochure Brochure PDF(4 MB)
HiScanSQ Specification Sheet Data Sheet PDF(< 1 MB)
HiSeq 1500/2500 Specification Sheet Data Sheet PDF(< 1 MB)
HiSeq 2500 Sequencing System Data Sheet PDF(< 1 MB)
HiSeq 3000/HiSeq 4000 Systems Specification Sheet Data Sheet PDF(< 1 MB)
HiSeq Applications Brochure Brochure PDF(4 MB)
HiSeq Sequencing Systems Brochure PDF(2 MB)
HiSeq Systems Specification Sheet Data Sheet PDF(< 1 MB)
HiSeq X Series of Sequencing Systems Specification Sheet Data Sheet PDF(1 MB)
High-Throughput DNA Methylation Profiling with VeraCode Technology Technical Note PDF(< 1 MB)
How Good Is My Microarray Experiment? Technical Note Technical Note PDF(< 1 MB)
How to Diagnose and Prevent Flow Cell Overclustering on the MiSeq System Technical Note PDF(3 MB)
Human Consortia Processes and Milestones FAQ Document PDF(< 1 MB)
Human Epigenome-Wide Association Studies Application Note Application Note PDF(< 1 MB)
HumanHT-12 v4 BeadChip Product Information Sheet PDF(< 1 MB)
HumanMethylation450 BeadChip Data Analysis Technical Note Technical Note PDF(< 1 MB)
HumanMethylation450 BeadChip Data Sheet Data Sheet PDF(< 1 MB)
HumanOmni Express Product Information Sheet Product Information Sheet PDF(< 1 MB)
HumanOmni1S BeadChip Product  Information Sheet Product Information Sheet PDF(< 1 MB)
HumanOmni1S Data Sheet Data Sheet PDF(< 1 MB)
HumanOmni2.5 BeadChip Product Information Sheet PDF(< 1 MB)
HumanOmni2.5-8 BeadChip Data Sheet Data Sheet PDF(< 1 MB)
HumanOmni2.5-8 BeadChip Product Information Sheet Product Information Sheet PDF(< 1 MB)
HumanOmni2.5-8 Multi-Use BeadChip Product Information Sheet Product Information Sheet PDF(< 1 MB)
HumanOmni2.5Exome-8 BeadChips Data Sheet Data Sheet PDF(< 1 MB)
HumanOmni2.5S Data Sheet Data Sheet PDF(< 1 MB)
HumanOmni5-4 Data Sheet Data Sheet PDF(< 1 MB)
HumanOmni5-Quad BeadChip Product Information Sheet Product Information Sheet PDF(< 1 MB)
HumanOmni5Exome BeadChips Data Sheet PDF(< 1 MB)
HumanOmniExpress BeadChip Product Information Sheet PDF(< 1 MB)
HumanOmniExpress Data Sheet Data Sheet PDF(< 1 MB)
HumanOmniExpressExome BeadChips Data Sheet PDF(< 1 MB)
HumanOmniZhongHua-8 v1.2 BeadChip Data Sheet Data Sheet PDF(< 1 MB)
Identification of Contamination in PGS Samples Technical Note Technical Note PDF(< 1 MB)
Illumina Exomes Comparative Table Data Sheet PDF(< 1 MB)
Illumina FastTrack Microarray Services Data Sheet Data Sheet PDF(< 1 MB)
Illumina GenCall Data Analysis Software Technical Note PDF(< 1 MB)
Illumina Genome Network Cancer Analysis Service Data Sheet PDF(< 1 MB)
Illumina Genome Network Data Sheet Data Sheet PDF(< 1 MB)
Illumina LIMS Data Sheet Data Sheet PDF(< 1 MB)
Illumina Sequencing Technology technology_spotlights PDF(< 1 MB)
Illumina TruSight® HLA Sequencing Panel Automated on the Biomek FXP Technical Note Technical Note PDF(1 MB)
Illumina Two-Channel SBS Sequencing Technology technology_spotlights PDF(< 1 MB)
Illumina VariantStudio Data Security Technical Note Technical Note PDF(< 1 MB)
Illumina VariantStudio Data Sheet Data Sheet PDF(2 MB)
IlluminaCompute Data Sheet Data Sheet PDF(< 1 MB)
Improved Accuracy for ELAND and Variant Calling Technical Note PDF(< 1 MB)
Improved Cluster Generation with Gentrain2 Technical Note PDF(< 1 MB)
Improved RNA-Seq of Blood-Derived RNA Application Note Application Note PDF(< 1 MB)
Improved Staining Procedure for the Infinium Methylation Assay Technical Note PDF(< 1 MB)
Imputation Estimates Genotypes at Un-Genotyped Loci Technical Note PDF(< 1 MB)
Imputing HumanHT-12 Expression BeadChip Data Technical Note PDF(< 1 MB)
Increased Platform Concordance by Analyzing Gene Sets Technical Note PDF(< 1 MB)
Infinium Assay Workflow Technical Note PDF(< 1 MB)
Infinium CytoSNP-850K BeadChip Data Sheet PDF(< 1 MB)
Infinium Genotyping Data Analysis Technical Note PDF(2 MB)
Infinium Human Exome-12 v1.2 BeadChip Data Sheet Data Sheet PDF(< 1 MB)
Infinium HumanCore BeadChip Data Sheet PDF(< 1 MB)
Infinium HumanCoreExome-24 BeadChips Data Sheet PDF(< 1 MB)
Infinium HumanMethylation450 BeadChip Product Information Sheet PDF(< 1 MB)
Infinium Methylation BeadChip Application Note Application Note PDF(< 1 MB)
Infinium OncoArray-500K v1.0 Data Sheet Data Sheet PDF(< 1 MB)
Infinium PsychArray BeadChip Data Sheet PDF(< 1 MB)
Informatic Updates for Whole-Genome Microarrays FAQ Document PDF(< 1 MB)
Information Technology Solutions for the Genome Analyzer Data Sheet PDF(< 1 MB)
Instrument Qualification Services Data Sheet PDF(< 1 MB)
Integrated Tools for DNA Analysis Brochure PDF(2 MB)
Integrating Gene Expression Analysis into Genome-Wide Association Studies Technical Note PDF(< 1 MB)
Interpreting Infinium Assay Data for Whole-Genome Structural Variation Technical Note PDF(1 MB)
Interview with Dr. James Hadfield case_study PDF(< 1 MB)
KaryoStudio Information and Benchmark Performance Tech Note Technical Note PDF(< 1 MB)
Karyomapping Products Product Information Sheet PDF(< 1 MB)
Laboratory Experience Using Illumina Next-Generation Sequencing for Noninvasive Prenatal Testing Application Note Application Note PDF(< 1 MB)
Lessening the Burden of Not Knowing case_study PDF(< 1 MB)
Leveraging Whole Human Genome Sequencing in Cancer Technical Note PDF(< 1 MB)
Low-Diversity Sequencing on the Illumina HiSeq Platforms Technical Note PDF(< 1 MB)
Low-Diversity Sequencing on the Illumina MiSeq Platform Technical Note PDF(< 1 MB)
MCS3 Reagent Improves DASL Assay Performance Technical Note PDF(< 1 MB)
MaizeSNP50 Data Sheet Data Sheet PDF(< 1 MB)
Merging Gene Expression and Methylation Data Technical Note PDF(< 1 MB)
Meta-Analysis Framework Technical Note PDF(< 1 MB)
Methylation Profiling of FFPE Samples Technical Note PDF(< 1 MB)
Methylation Profiling with Illumina's GoldenGate Assay using BeadArray Technology Technical Note PDF(< 1 MB)
MiSeq Applications Brochure Brochure PDF(3 MB)
MiSeq Brochure Brochure PDF(2 MB)
MiSeq FGx Forensic Genomics Brochure Brochure PDF(2 MB)
MiSeq System Product Information Sheet Data Sheet PDF(< 1 MB)
MiSeqDx Instrument Data Sheet Data Sheet PDF(< 1 MB)
MicroArray Quality Control (MAQC) Project: An Overview of the Published Findings Technical Note PDF(< 1 MB)
Microarray Data Analysis Workflows Technical Note PDF(< 1 MB)
Molecular Cytogenetics Data Sheet PDF(1 MB)
More Robust Reagents for Use in the Whole-Genome DASL Assay Technical Note PDF(2 MB)
Mouse Low Density and Medium Density Linkage Panels Data Sheet PDF(< 1 MB)
Multi-Use Sample Prep Kits Data Sheet Data Sheet PDF(< 1 MB)
Multiplexed Sequencing with the Illumina Genome Analyzer System Data Sheet PDF(< 1 MB)
NeoPrep Library Prep System Data Sheet PDF(1 MB)
New Algorithms Increase Computing Efficiency for IGN Whole-Genome Analysis Technical Note Technical Note PDF(< 1 MB)
New FastTrack Services Whole-Genome Sequencing Workflows Technical Note PDF(< 1 MB)
NextBio API Overview Technical Note PDF(< 1 MB)
NextSeq 500 Sequencing System Brochure Brochure PDF(7 MB)
NextSeq 500 Sequencing System Specification Sheet Data Sheet PDF(< 1 MB)
NextSeq 500 System Amplicon Sequencing Solution Application Note PDF(< 1 MB)
NextSeq 500 System Exome Solution Application Note Application Note PDF(< 1 MB)
NextSeq 500 System RNA-Seq Solution Application Note PDF(< 1 MB)
NextSeq 500 System WGS Solution Application Note Application Note PDF(< 1 MB)
Nextera DNA Library Preparation Kits Data Sheet Data Sheet PDF(< 1 MB)
Nextera DNA Sample Preparation Kits Data Sheet PDF(< 1 MB)
Nextera Library Validation and Cluster Density Optimization Technical Note PDF(< 1 MB)
Nextera Low Plex Pooling Guidelines Technical Note PDF(< 1 MB)
Nextera Rapid Capture Custom Enrichment Data Sheet Data Sheet PDF(< 1 MB)
Nextera Rapid Capture Enrichment Low-Plex Pooling Guidelines Technical Note PDF(< 1 MB)
Nextera Rapid Capture Exome Data Sheet Data Sheet PDF(< 1 MB)
Nextera Sample Prep for the MiSeq System Application Note Application Note PDF(< 1 MB)
Noninvasive Prenatal Testing Helps Parents Prepare for Their Newest Family Member case_study PDF(< 1 MB)
Noninvasive Prenatal Testing Provides a Mother With Reassurance case_study PDF(< 1 MB)
Novel Library Prep Method for WGBS Application Note Application Note PDF(< 1 MB)
Omni Whole-Genome Arrays Data Sheet Data Sheet PDF(< 1 MB)
Optimizing Coverage for Targeted Resequencing Tech Note Technical Note PDF(< 1 MB)
OvineSNP50 BeadChip Data Sheet Data Sheet PDF(< 1 MB)
Pepper Consortium Array FAQ Document PDF(< 1 MB)
Phasing Analysis Service for Whole Human Genome Sequencing Data Sheet PDF(< 1 MB)
PorcineSNP60 BeadChip Data Sheet Data Sheet PDF(< 1 MB)
PorcineSNP60 v2 BeadChip FAQ FAQ Document PDF(< 1 MB)
Power of Intelligent SNP Selection Technical Note PDF(< 1 MB)
Power of Replicates Technical Note PDF(< 1 MB)
QTL Analysis Software Tools for Illumina Data Technical Note PDF(< 1 MB)
Quality Measures for 24sure Microarrays Technical Note Technical Note PDF(2 MB)
Quality Measures for CytoChip Microarrays Technical Note Technical Note PDF(2 MB)
Quality Scores Tech Note Technical Note PDF(< 1 MB)
RNA-Seq Data Processing Technical Note PDF(< 1 MB)
Ranking of Genes, SNVs, and Sequence Regions Technical Note PDF(2 MB)
Rapid Method for Ribosome Profiling Application Note Application Note PDF(< 1 MB)
Read Length and Nextera Rapid Capture Exome Data Data Sheet PDF(< 1 MB)
Real Science Real Performance Brochure Brochure PDF(5 MB)
Reducing Whole-Genome Data Storage Footprint White Paper White Paper PDF(< 1 MB)
Reversing the Trend: More Bases with Less Computing Data Sheet PDF(< 1 MB)
RiboSeq Application Note Application Note PDF(< 1 MB)
SCS v2.10 / RTA v1.13 software increases yield and supports Illumina Nextera dual indexing Technical Note PDF(< 1 MB)
STM Reagent Improves Robustness of Infinium Methylation Assay Technical Note PDF(< 1 MB)
Sample Types for Genotyping Assays Technical Note PDF(< 1 MB)
ScriptSeq Complete Gold (Blood) Data Sheet Data Sheet PDF(< 1 MB)
Sequencing Library QC on the MiSeq System Application Note Application Note PDF(< 1 MB)
Sequencing Portfolio Brochure Brochure PDF(6 MB)
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Solid Tumor Molecular Profiling Technical Note PDF(< 1 MB)
Somatic Variant Caller Technical Note Technical Note PDF(< 1 MB)
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SureMDA DNA Amplification System Product Information Sheet PDF(< 1 MB)
SurePlex DNA Amplification System Product Information Sheet Product Information Sheet PDF(< 1 MB)
SureRef Product Information Sheet Product Information Sheet PDF(< 1 MB)