Streamlined SNP and CNV Workflow Solutions for Pharmacogenomics (PGx) Research

Streamlined PGx workflow solution to go from sample to genotyping results, with ease

We offer a comprehensive PGx workflow solution designed to help you meet your laboratory’s throughput and sample volume needs wherever you are in your PGx journey.

 

Since 2012, our Applied Biosystems real-time PCR technology has been used for PGx research to analyze millions of samples to date. Combining the power of the Applied Biosystems QuantStudio real-time PCR systems with qualified Applied Biosystems TaqMan and TrueMark assays for genotyping, our latest solution now offers a streamlined SNP and CNV workflow solution that enables labs to easily implement, operate, and scale more efficiently.

Designed to increase efficiency and get relevant PGx results for your research faster

The Applied Biosystems TrueMark PGx SNP + CNV Real-Time PCR Solution is designed to help labs implement, operate, and scale efficiently. Benefits include:

  • Fast, streamlined workflow—Single-run workflow helps increase lab efficiency, enabling sample to genotyping results within a typical 8-hour shift*
  • Relevant, guideline-driven content with reliable performance—Demonstrates ≥95% accuracy and call rates for SNP and CNV (CYP2D6)
  • Flexible and scalable—Available in multiple formats with predesigned and custom options to help you adapt to varying sample volumes and market needs
  • Dedicated services and support—Analytical validation (AV) consulting and technical services help facilitate accelerated onboarding and ongoing support

Relevant, guideline-driven content—available in multiple formats for added flexibility

Our fixed-content panels include SNP and CNV assays on a pre-spotted plate, available in OpenArray plate and 384-well plate formats. The panels are designed with the latest guidelines in mind, making it easier for you to return relevant results.

Which format is most suitable for your needs?

OpenArray Plates

Compatible with our flagship QuantStudio 12k Flex Real-Time PCR system, OpenArray plates are most suitable for mid-to-high throughput PGx applications, or when seeking a broader, more comprehensive panel. The QuantStudio 12K Flex real-time PCR system offers interchangeable block capabilities to help laboratories scale up or down with ease. OpenArray plates are available in 64-target and 128-target formats to help grow with your laboratory needs.

384-well Plates

The 384-well plate format is compatible with our QuantStudio 5, 7 Flex, and 12K Flex real-time PCR systems when used with its companion 384-well plate block. For low- to mid-throughput applications, laboratories seeking a targeted panel with single or fewer genes can start with this format and easily pivot to the OpenArray format as sample volumes grow.

Panel selection and comparison guides

 

  OpenArray plate 384-well plate
Format 128 reactions/sample 64 reactions/sample 64 reactions/sample
Panel size Large Medium Small
Sample volume 24 samples/plate 48 samples/plate 6 samples/plate
Sample throughput Medium High Low
Instrument compatibility
  • QuantStudio 12K Flex real-time PCR system with OpenArray block
  • QuantStudio 5, 384-well real-time PCR system
  • QuantStudio 7 real-time PCR system with 384-well block
  • QuantStudio 12K Flex real-time PCR system with 384-well block
Recommended use case Comprehensive panel content with a medium-to-high sample throughput requirement Core panel content coverage with high sample throughput requirements Core panel content coverage with low sample throughput requirements

Gene targets by format

Gene Targets OpenArray (128) OpenArray plate (64) 384-well plate (64)
ABCG2 ✓    
APOE ✓    
BCHE ✓    
CYP2B6 ✓   ✓
CYP2C19 ✓ ✓ ✓
CYP2C9 ✓ ✓ ✓
CYP2D6 ✓ ✓ ✓
CYP3A4 ✓ ✓ ✓
CYP3A5 ✓ ✓ ✓
CYP4F2 ✓   ✓
DPYD ✓ ✓ ✓
G6PD ✓    
NAT2 ✓    
NUDT15 ✓ ✓ ✓
RNR1 ✓    
SLCO1B1 ✓ ✓ ✓
TPMT ✓ ✓ ✓
UTG1A1 ✓    
VKORC1 ✓ ✓ ✓
2C Cluster ✓   ✓
UGT2B17 ✓ ✓  

Not seeing a specific target of interest?

 

Ask us about customization. We offer a catalog of over 2,800 predesigned drug metabolism enzyme (DME), SNP, and CNV genotyping assays, making it easy to configure a panel to your laboratory’s specifications—without the challenges and complexities that come with a multiplexing approach. 

SNP and CNV in a single run—with a sample-to-genotyping results workflow

Each TrueMark PGx SNP + CNV real-time PCR panel is part of a streamlined lab and data analysis workflow designed to maximize efficiency, enabling you to obtain and analyze genotyping results in one run.

 

With Applied Biosystems real-time PCR technology, swiftly go from sample to genotyping results in as little as 5 hours*, allowing you to start another run within a typical 8-hour shift.

Sample to genotyping results workflow demonstrating streamlined process used with the TrueMark PGx SNP+CNV real-time PCR panel

* Turnaround time depends on format type and DNA quantification method of choice. Real-time PCR is the recommended and most reliable quantification method and can return results within 7–10 hours. However, when turnaround is of the highest priority, UV spectrophotometry DNA quantification can be used to return results in 5–7 hours.

Scientific posters

Use of OpenArray SNP and CNV PGx research panel to determine phenotypes of drug metabolism genes

Presented at AMP 2024, this research poster demonstrates how the OpenArray panel with TaqMan assays can streamline SNP and CNV analysis, achieving up to 88% phenotype consensus with GeT-RM DNA in pharmacogenomic research.

Performance of SNP and CNV PGx research panel on 384-well plate to determine phenotypes of drug metabolism genes

This research poster, presented at ESHG 2025, shows how a 384-well qPCR panel integrating TaqMan SNP Genotyping and Copy Number assays can accurately determine phenotypes of key pharmacogenetic markers with high reliability.

Amplification control for confidence in PGx results

The TrueMark PGx Comprehensive Plasmid Control includes three linearized plasmid pools containing human genome sequences commonly used in PGx testing. This advanced design combines both SNP and CNV targets in a single plasmid pool, offering greater convenience and helping conserve reagents. The kit is optimized for use with TrueMark and TaqMan real-time PCR assays to detect homozygous and heterozygous SNP genotypes and to identify CNVs for CYP2D6 and UGT2B17.

 

Integrated SNP and CNV analysis with Diomni Design and Analysis (RUO) Software v3.0 for PGx

Diomni Design and Analysis (RUO) Software v3.0 is a comprehensive, feature-rich software solution for PGx research that connects all the steps of your qPCR workflow into a single software experience. Benefit from:

  • Streamlined integration—Vast features for plate setup, quality checks, and primary and secondary analysis modules (including SNP and CNV analysis) through a single interface
  • Multi-deployment options—Select from a classic desktop experience, cloud-based application, or an on-premises solution to support the needs of your growing laboratory
  • Flexibility—Compatible with any Applied Biosystems QuantStudio real-time PCR instrument, tailor your laboratory workflow experience with security and compliance, analysis modules, template setup, export options, and more

Connect the facets of your lab’s qPCR workflow into a single, easy-to-use software solution with Diomni Design and Analysis (RUO) Software v3.0.

Analytical validation consulting services

Are you ready to accelerate and streamline your validation process? With our analytical validation (AV) consulting services, we collaborate with you to oversee your validation process, offering data analysis assistance and template documentation as part of our comprehensive instrument and reagent investment package. On average, we can help you manage the validation process up to 75% faster than on your own**. And by supplying control samples and support for data analysis and reporting, we can help you reduce costs by up to 50% for your completed AV.

** Each engagement is unique and average times may vary.

For Research Use Only. Not for use in diagnostic procedures.