Infinium Global Clinical Research Array with Enhanced PGx-24 v1.0 Kit

This microarray offers comprehensive, genome-wide coverage of pharmacogenomic (PGx) markers and features a fast, highly scalable automated workflow.

5,760 samples/week max throughput per iScan System. Throughput and scan times will vary based on system configuration.

Sample throughput

24 samples per array

Number of samples

1,185,155 markers with 10,000 custom marker capacity

Number of markers

See full details in the specifications table

Overview

This microarray is designed for high-throughput pharmacogenomics (PGx) and large-scale genotyping studies. The 24-sample size offers an excellent mix of variant coverage and scalability while featuring:

  • Over 1.2M genome-wide markers, including critical PGx variants, replacing multiple arrays and PCR assays

     

  • 35,000 variants from recognized PGx databases, including PharmGKB, CPIC, PharmVar, and ClinVar

  • 100% coverage of priority level A and B CPIC genes

  • Targeted gene amplification step for analysis of hard-to-assess PGx genes like CYP2D6, CYP2B6, and TPMT

  • 10,000 marker custom add-on capacity

  • Improved coverage of underrepresented populations compared with Infinium Global Screening Array-24 v3.0 and Infinium Global Screening Array-48 v4.0

Global content

Genome-wide coverage of variants with established disease associations, relevant PGx markers, and curated exonic content derived from ClinVar, NHGRI, PharmGKB, and ExAC databases.

Scalable throughput

Infinium EX format is compatible with the Infinium Amplification System and the Infinium Automated Pipetting System with ILASS to enable a scalable 2.5-day workflow.

Intuitive analysis

DRAGEN Array secondary analysis enables accurate, comprehensive, and efficient CNV calling and star allele annotation.

Specifications

Required Products

The main difference between each Infinium Global Clinical Research Array with Enhanced PGx-24 Kit is the number of samples supported with the provided reagents. Select from kits with a “+” designation when custom content is needed for the array. 

Customers will need the iScan System, Infinium Automated Pipetting System with ILASS, and an Infinium EX/XT Starter Kit 220V or Infinium EX/XT Starter Kit 110V. 

The Infinium Amplification System is optional but can be added to enable automation of the pre-amplification steps in the workflow. 

/ Results

Applications

Powerful array for genome-wide pharmacogenomics markers. This tool also supports clinical research and molecular blood typing studies with diverse and underrepresented groups.

Example workflow

1
Prep

Infinium Global Clinical Research Array with Enhanced PGx

2
Process
3
Analyze

Related applications and methods

Documentation

Product literature

Compare

Infinium Global Clinical Research Array with Enhanced PGx-24 v1.0 Kit Infinium Global Clinical Research Array-24 v1.0 Kit Infinium Global Screening Array with Enhanced PGx-48 v4.0 Kit Infinium Global Diversity Array with Enhanced PGx
Assay type Infinium EX Infinium EX Infinium EX Infinium LCG
Automation capability Liquid handling robot(s) Automated array loader, Liquid handling robot(s) Automated array loader, Liquid handling robot(s) Automated array loader, Liquid handling robot(s)
Input quantity 200 ng 100 ng 200 ng 200 ng
Instruments iScan System iScan System iScan System iScan System
Method High-throughput genotyping array, Genome-wide genotyping array High-throughput genotyping array, Genome-wide genotyping array Genome-wide genotyping array
Nucleic acid type DNA DNA DNA DNA
Number of markers 1,185,155 markers with 10,000 custom marker capacity Fixed markers: 1,157,992, Custom marker add-on capacity: Up to 50,000 656,275 markers and 10,000 custom marker capacity 1,933,117 markers in total; custom add-on capacity of 125K
Number of samples 24 samples per array 24 samples per array 48 samples per array 8 samples per array
Sample throughput 5,760 samples/week max throughput per iScan System. Throughput and scan times will vary based on system configuration. 5760 samples per week 11,520 samples/week max throughput per iScan System. Throughput and scan times will vary based on system configuration 1728 samples per week
Specialized sample types Blood Blood Blood Blood
Species category Human Human Human Human
Technology Microarray Microarray Microarray Microarray

Selection tools:

Figures

figure 1

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 variants annotated in PharmGKb, genome-wide PGx coverage, extended AdMe genes,3 CPIC level A genes, and targeted imputation tag SNPs.

figure 2

Disease research content covering diverse populations

The Infinium Global Clinical Research Array with Enhanced PGx-24 v1.0 includes extensive coverage of phenotypes and disease classifications based on nhGRI GwAs database categories.

figure 4

Distribution of variant pathology classifications according to Clinvar and ACMG annotations

Variants cover a range of pathogenic and nonpathogenic evidence.

Figure 3

Clinical research content

Expertly selected clinical research content from key databases supports a broad range of applications.

figure 5

QC content by category

The Infinium Global Clinical Research Array with enhanced PGx-24 v1.0 contains ~9K markers enabling various sample tracking functions such as sex determination, continental ancestry, human linkage, and more.

  1. Counts contain some markers that are represented in multiple QC categories.

References

  1. 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
  2. Clinical Pharmacogenetics Implementation Consortium (CPIC). cpicpgx.org. Accessed September 13, 2024.
  3. 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 Clinical Research Array with Enhanced PGx-24 v1.0 Kit (24 samples)

20065216

Includes one, 24-sample BeadChip and reagents for amplifying, fragmenting, hybridizing, labeling, and detecting 24 DNA samples. Requires 200 ng DNA for input. Each kit is processed as a single batch.

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Infinium Global Clinical Research Array with Enhanced PGx-24 v1.0 Kit (96 samples)

20068339

Includes four, 24-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.

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Infinium Global Clinical Research Array with Enhanced PGx-24 v1.0 Kit (1152 samples)

20068340

Includes 48, 24-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.

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Infinium Global Clinical Research Array with Enhanced PGx-24+ v1.0 Kit (24 samples)

20068354

Infinium Global Clinical Research Array with Enhanced PGx-24+ v1.0 Kit (24 samples)

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Infinium Global Clinical Research Array with Enhanced PGx-24+ v1.0 Kit (96 samples)

20068355

Infinium Global Clinical Research Array with Enhanced PGx-24+ v1.0 Kit (96 samples)

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Infinium Global Clinical Research Array with Enhanced PGx-24+ v1.0 Kit (1152 samples)

20068356

Infinium Global Clinical Research Array with Enhanced PGx-24+ v1.0 Kit (1152 samples)

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Software options (2)

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.

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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.

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Data analysis and storage (8)

Illumina Analytics - 1 iCredit

20042038

iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.

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Illumina Analytics  Starter Pack - 1,000 iCredits

20042039

iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.

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Illumina Analytics  - 5,000 iCredits

20042040

iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.

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Illumina Analytics  - 50,000 iCredits

20042041

iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.

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Illumina Analytics - 100,000 iCredits

20042042

iCredits are used for data storage and analysis on either BaseSpace Sequence Hub or Illumina Connected Analytics.

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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.

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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.

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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).

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Selection summary

Product

Qty

Unit Price

FAQs

  • 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

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

The Infinium Global Clinical Research Array with Enhanced PGx-24 provides the optimal balance of PGx and genome-wide content, throughput, and coverage of diverse populations. The additional content in this array compared with the Infinium Global Screening Array with Enhanced PGx-48 v4.0 are variants associated with disease risk and clinical research. This array has better imputation coverage across even minor allele frequencies compared with screening array solutions from other vendors.

The additional content on this array compared with the Infinium Global Clinical Research Array is the Enhanced PGx content, which includes 100% coverage of priority level A and B CPIC genes and variants from recognized PGx databases such as PharmGKB, PharmVar, CPIC, and ClinVar.

/ Results

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