Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit
This microarray is a cost-effective, high-throughput tool for pharmacogenomics (PGx) research and large-scale genotyping studies.
Infinium Global Screening Array with Enhanced PGx-48 v4.0 Data sheet PDF < 1 MB
Data sheet PDF < 1 MB
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Overview
This microarray is built for high-throughput laboratories performing pharmacogenomics (PGx) research and large-scale genotyping studies. The 48-sample size offers excellent scalability and a 2.5 day workflow while featuring:
656,275 variants selected from globally recognized databases
Over 1.2M genome-wide markers, including critical PGx variants, replacing multiple arrays and PCR assays
100% coverage of priority level A and B CPIC genes
Targeted gene amplification for analysis of hard-to-assess genes like CYP2D6, CYP2B6, and TPMT
10,000 marker custom add-on capacity that enables flexibility
Compatible with powerful DRAGEN Array secondary analysis
Genome-wide content includes variants with established disease associations, relevant pharmacogenomics markers, and curated exonic content derived from ClinVar, NHGRI, PharmGKB, and ExAC databases.
Infinium EX format is compatible with the advanced Infinium Amplification System and the Infinium Automated Pipetting System with ILASS to enable an automated, scalable workflow with a 2.5-day turnaround time.
DRAGEN Array secondary analysis enables accurate, comprehensive, and efficient PGx CNV (copy number variants) calling and star allele annotation.
Applications
High-throughput genotyping array for pharmacogenomic and precision medicine research
Example workflow
Infinium Global Screening Array with Enhanced PGx
DesignStudio is a web-based assay design tool to help researchers design and order custom genotyping microarray probes or custom sequencing assays.
iScan System
The iScan microarray scanner supports high-throughput Beadchip processing, scanning hundreds to thousands of samples quickly and accurately.
Infinium Automated Pipetting System with ILASS
Automation options with robot control software for Infinium assays streamline sample preparation workflows and reduce errors.
Infinium Amplification System
DRAGEN Array
DRAGEN Array provides accurate, comprehensive and efficient secondary analysis for Infinium microarrays.
Related applications and methods
Understand how variations in the human genome affect our response to medications
Pharmacogenomics, the study of how variations in the human genome affect our response to medications, may help reduce adverse drug reactions and medical costs.
Annotated research database content summary
Distribution of markers for genome-wide coverage, clinical research, enhanced PGx, and quality control (QC).
Broad spectrum of pharmacogenomics markers
Clinical research content developed from an extensive list of pharmacogenomics markers selected based on CPIC guidelines and the PharmGKB database. 1,2 Content includes PGx public database variants, variants annotated in PharmGKB, CPIC, genome-wide PGx coverage, extended ADME genes, 3 CPIC level A genes, including targeted imputation tag SNPs, and CPIC level A CNV tags.
Disease research content covering diverse populations
The Infinium Global Screening Array with Enhanced PGx v4.0 includes extensive coverage of phenotypes and disease classifications based on NHGRI GWAS database categories
Pathological
Distribution of variant pathology classifications according to ClinVar and ACMG annotations.
Clinical research database content
Expertly selected clinical research content from key databases supports a broad range of applications.
QC content by category
The Infinium Global Screening Array with Enhanced PGx-48 v4.0 contains ~8.3K QC markers enabling various sample tracking functions such as sex determination, continental ancestry, human linkage, and more.
Counts contain some markers that are represented in multiple QC categories.
Infinium EX Workflow
The Infinium EX 48-sample workflow provides a rapid workflow with minimal hands-on time.
References
Whirl-Carrillo M, Huddart R, Gong L, et al. An Evidence-Based Framework for Evaluating Pharmacogenomics Knowledge for Personalized Medicine . Clin Pharmacol Ther. 2021;110(3):563572. doi:10.1002/cpt.2350
Clinical Pharmacogenetics Implementation Consortium (CPIC). cpicpgx.org . Accessed September 13, 2024.
Gaedigk A, Casey ST, Whirl-Carrillo M, Miller NA, Klein TE. Pharmacogene Variation Consortium: A Global Resource and Repository for Pharmacogene Variation . Clin Pharmacol Ther. 2021;110(3):542-545. doi:10.1002/cpt.2321.
Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit (48 samples)
20065219
Includes one, 48-sample BeadChip and reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 48 DNA samples. Requires 200 ng DNA for input. Each kit is processed as a single batch. View less
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Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit (96 samples)
20068346
Includes two, 48-sample BeadChips and reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 96 DNA samples. Requires 200 ng DNA for input. Each kit is processed as a single batch. View less
Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit (1152 samples)
20068347
Includes 24, 48-sample BeadChips and reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 1152 DNA samples. Requires 200 ng DNA for input. Each kit is processed as a single batch. View less
Infinium Global Screening Array with Enhanced PGx-48+ v4.0 Kit (48 Samples)
20068363
The Infinium Global Screening Array-48 v4.0 (GSA) is a higher throughput beadchip that combines multi-ethnic genome-wide content, curated clinical research variants, and quality control (QC) markers for precision medicine research. View less
Infinium Global Screening Array with Enhanced PGx-48+ v4.0 Kit (96 Samples)
20068364
Infinium Global Screening Array with Enhanced PGx-48+ v4.0 Kit (1152 Samples)
20068365
DRAGEN Array Local - star allele annotation
20109885
Per sample analysis quota for star allele calling using DRAGEN Array Local. One per sample analysis quota is needed per sample analyzed for star allele calling using the star-allele call subcommand. DRAGEN Array Local is a command-line software with no FPGA hardware or specialized server required and is downloadable from the Illumina Support Site. Internet is required for per sample quota check. View less
DRAGEN Array Cloud - star allele annotation
20109886
Per sample analysis quota for star allele calling using DRAGEN Array Cloud. One per sample analysis quota is needed per sample analyzed for star allele calling using the analysis type, DRAGEN Array – PGx – star allele calling. DRAGEN Array Cloud provides analysis kickoff using BaseSpace Sequence Hub. The BaseSpace Sequence Hub access is facilitated by an Illumina Connected Analytics (Basic, Professional, or Enterprise) annual subscription. iCredits are used to store data on the cloud platform. View less
Illumina Analytics - 1 iCredit
20042038
iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics. View less
Illumina Analytics Starter Pack - 1,000 iCredits
20042039
Illumina Analytics - 5,000 iCredits
20042040
Illumina Analytics - 50,000 iCredits
20042041
Illumina Analytics - 100,000 iCredits
20042042
ICA Basic Annual Subscription
20044874
Illumina Connected Analytics (ICA) Basic Annual Subscription. This product includes 1 year of access to ICA Basic, including sequencing instrument connectivity, data management capabilities, and access to pre-packaged analysis tools. View less
ICA Professional Annual Subscription
20044876
Illumina Connected Analytics (ICA) Professional Annual Subscription. This product includes 1 year of access to ICA, including sequencing instrument connectivity, data management capabilities, access to pre- packaged tools, and the ability to create customized workflows composed of tools, pipelines, data warehouses, and notebooks. View less
ICA Enterprise Annual Subscription
20038994
Illumina Connected Analytics (ICA) Enterprise Annual Subscription. This product includes 1 year of access to ICA Enterprise, including sequencing instrument connectivity, data management capabilities, custom and pre-packaged analysis tools, and the Base module for data warehousing and mining. ICA Enterprise also includes optional HIPAA BAA (US-only), single sign-on (SSO), and a service level agreement (SLA). View less
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How does the workflow for GSA v4 with ePGx differ from previous Infinium workflows?
The whole-genome amplification step is 3 hrs for Infinium EX compared with 24 hrs for legacy workflows
There is an additional step for targeted gene amplification (TGA) to disambiguate pseudogenes
Kits include updated EH&S-friendly reagents that are formamide-free
ILASS provides an improved UI (user interface) and support experience
What automation can be used to run the assay?
Infinium Automated Pipetting System with ILASS (IAPS with ILASS): Required for post-amplification steps
Infinium Amplification System (IAS): Optional for pre-PCR steps (whole genome amplification and targeted gene amplification) These automation instruments offer:
High throughput capabilities: the IAS can process 4 plates in 25 minutes and the IAPS with ILASS can process 1 plate in 25 minutes
Efficiency: Use 8-tip and 96-tip heads (disposable tips are provided by the customer)
Automation software: ILASS, which comes with out-of-the-box integration with hosted Clarity LIMS software
How does this product compare to Infinium Global Screening Array v3.0 and v4.0?
The Infinium Global Screening Array with Enhanced PGx-48 v4.0 Beadchip is a high-throughput genotyping microarray for pharmacogenomic studies. The additional content on this array compared with the Infinium Global Screening Array-48 v4.0 is the Enhanced PGx content, which includes 100% coverage of priority level A and B CPIC genes from recognized PGx databases such as PharmGKB, PharmVar, CPIC, and ClinVar. The genomic backbone coverage is based on the Global Screening Array v3.0; however, the 48-sample design ensures increased scalability and cost-effectiveness. This array is an ideal tool for high-volume, population screening initiatives.
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