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Preimplantation Genetic Testing

Preimplantation genetic testing research depends on generating reliable genomic data from limited embryo biopsy material. Our solutions support NGS-based PGT-A and copy number variation research workflows, with tools for whole genome amplification, sample indexing, sequencing, and analysis. Whether you need an end-to-end PGT-A workflow or whole genome amplification as part of a PGT research application, we can help you choose the right solution for your throughput and downstream analysis needs.

Need help choosing a PGT research workflow?

Our experts can help you match your sample type, throughput, multiplexing needs, and analysis goals to the right Revvity solution.
 


For research use only. Not for use in diagnostic procedures.

Revvity, Inc. does not endorse or make recommendations with respect to research, medication, or treatments. All information presented is for informational purposes only and is not intended as medical advice. For country specific recommendations, please consult your local health care professionals.
 

Select your PGT workflow

Workflow Revvity solution How to choose
End-to-end NGS workflow for PGT-A and copy number variation research PG-Seq™ Rapid v2 Kit with PG-Seq™ Indexing Primers (8NT and 12NT) Choose PG-Seq Rapid v2 when you need a streamlined workflow for embryo biopsy research samples, from sample preparation and whole genome amplification through sequencing and downstream analysis. PG-Seq indexing primers are required for the PG-Seq Rapid v2 workflow. Select the 8 nt format when your sample volume fits within a 96-index set, or the 12 nt format when your PG-Seq workflow requires expanded multiplexing capacity, with up to 384 available indexes.
Whole genome amplification for PGT research applications DOPLify® WGA V2 Kit Choose DOPLify when whole genome amplification is needed as an upstream step before downstream methods such as CNV analysis, STR genotyping, targeted enrichment, or sequencing


Key applications and workflow considerations in PGT research

PGT research workflows are designed to answer different genomic questions from embryo biopsy samples, from chromosome-level aneuploidy assessment to downstream analyses that depend on whole genome amplification. The sections below highlight key application areas and workflow considerations that can influence solution selection.

PGT-A and aneuploidy analysis

PGT-A research evaluates chromosome copy number status, including whole chromosome gains and losses. NGS-based approaches can support scalable chromosome-level assessment across multiple samples while generating data suitable for copy number analysis.

Copy number variation and segmental abnormality analysis

Beyond whole chromosome changes, PGT research workflows may also assess sub-chromosomal copy number variation and segmental abnormalities. These applications depend on broad genome representation, consistent sequencing performance, and analysis methods that can distinguish copy number changes from workflow-related noise.

Downstream genomic analysis in PGT research

Some PGT research workflows extend beyond chromosome-level aneuploidy assessment and require amplified genomic DNA for additional analysis methods. Depending on the research question, amplified embryo biopsy DNA may be used in workflows such as CNV analysis, STR genotyping, targeted enrichment, sequencing, or other downstream genomic applications. In these workflows, the amplification strategy can influence assay compatibility, genome representation, and confidence in the resulting data.

Sample traceability and contamination monitoring

As PGT workflows scale, confident sample tracking becomes increasingly important. Approaches that help identify potential sample swaps, mislabeling, or external DNA contamination can support confidence in data quality before downstream results are interpreted.

close-up view of human embryos undergoing Preimplantation Genetic Testing

PGT research workflow solutions

PGT research workflows differ in how much of the process needs to be integrated. For labs focused on PGT-A and copy number analysis, an end-to-end NGS workflow can simplify the path from embryo biopsy sample through sequencing and analysis. For workflows that use other downstream methods, standalone whole genome amplification can serve as the front-end step before CNV analysis, STR genotyping, targeted enrichment, sequencing, or other genomic approaches.

PG-Seq Rapid v2 for PGT-A and copy number variation analysis

PG-Seq™ Rapid v2 is an NGS-based workflow for PGT-A and copy number variation analysis from embryo biopsy research samples. The kit brings together cell lysis, whole genome amplification, indexing, and library generation in a protocol designed to support chromosome-level and segmental copy number assessment.

PG-Seq indexing primers are used as part of the workflow and selected based on sample volume and multiplexing strategy. The 8 nt indexing format supports sample volumes that fit within a 96-index set, while the 12 nt indexing format expands available barcode capacity up to 384 indexes for higher-throughput needs.

Downstream analysis is supported through PG-Find™ software for aneuploidy and copy number variant analysis. Separately, mtDNA-based sample monitoring with mtDetect™ can help identify potential sample swaps, mislabeling, and external DNA contamination.

For labs processing higher sample volumes, automation can also support more consistent PGT-A sample preparation and reduce manual pipetting burden. Learn more about automation in routine PGT-A workflows.

DOPLify WGA V2 for PGT research applications

DOPLify® WGA V2 supports PGT research workflows where whole genome amplification is needed before a separate downstream analysis method. Instead of functioning as a complete PGT-A/CNV workflow, the kit serves as an upstream amplification step for workflows that require amplified embryo biopsy DNA before additional genomic analysis.

This can support downstream methods such as CNV analysis, STR genotyping, targeted enrichment, sequencing, or other PGT research approaches. In this context, the value of WGA is not simply generating more DNA. It helps prepare limited genomic material for downstream workflows where genome representation, assay compatibility, and data quality all matter.

FAQs

  • How is PGT-A different from copy number variation analysis?

    PGT-A research is focused on chromosome copy number status, including whole chromosome gains and losses. Copy number variation analysis can also include sub-chromosomal gains and losses, sometimes referred to as segmental abnormalities. For NGS-based workflows, the ability to assess these changes depends on genome amplification quality, sequencing performance, and downstream analysis methods.

  • Why does whole genome amplification matter in PGT research workflows?

    Embryo biopsy samples contain limited genomic material, so whole genome amplification is often needed before downstream analysis can be performed. The amplification step can influence genome representation, copy number noise, assay compatibility, and the quality of data generated for downstream sequencing or other genomic methods.

  • Why is sample traceability important in PGT workflows?

    PGT workflows often involve limited sample material, multiple processing steps, and careful sample tracking across plates or runs. Sample traceability approaches can help identify issues such as sample swaps, mislabeling, or external DNA contamination before downstream results are interpreted.

  • What should labs consider when scaling PGT-A workflows?

    As sample volume increases, labs may need to evaluate indexing capacity, sequencing run planning, automation compatibility, sample tracking, plate setup, and analysis consistency. Higher-throughput workflows benefit from planning these elements together rather than treating sample prep, indexing, sequencing, and analysis as separate decisions.

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