Search
Preimplantation Genetic Testing for Monogenic/Single-Gene Disorders (PGT-M) is widely used in reproductive genetics research to investigate inherited variants in embryos generated through in-vitro fertilization (IVF). In research settings, PGT-M workflows enable the study of variant inheritance, haplotyping strategies, and assay performance for detecting disease-associated mutations.
In collaboration with Journey Genomics, S.L., Thermo Fisher Scientific provides a targeted next-generation sequencing (NGS) workflow based on Ion Torrent technology and PGD-SEQ research panels to support method development, workflow evaluation, and assay verification in research laboratories.
How targeted NGS enables PGT-M research for monogenic disorders
Targeted next-generation sequencing (NGS) is a technology for preimplantation genetic testing for monogenic disorders (PGT-M), enabling accurate detection of single-gene variants and high-resolution haplotype analysis across defined genomic regions.
With targeted NGS, researchers can:
- Perform SNP-based linkage analysis for accurate haplotyping of inherited variants
- Analyze multiple genes and linked markers in a single, multiplexed workflow
- Evaluate assay performance across sample types, including low-input and whole genome amplified (WGA) DNA
Learn about PGT from key opinion leaders in the field
alcaraz-headshot
PGD-SEQ PGT-M research panels
PGD-SEQ* kits are targeted amplification solutions designed for preimplantation genetic testing of monogenic/single-gene disorders (PGT-M) in research workflows. PGD-SEQ kits offer over 500 gene panels to support investigation of embryo genetic status across both common and rare inherited conditions in IVF research.
Developed in collaboration with Journey Genomics, S.L., and powered by Ion Torrent next-generation sequencing (NGS) technology, PGD-SEQ enables a single research sample to be used for both PGT-A and PGT-M investigations within a simplified and integrated workflow.
What are PGD-SEQ panels used for?
PGD-SEQ panels are used in reproductive genetics research to:
- Amplify genomic regions associated with inherited single-gene disorders
- Generate data for SNP-based linkage analysis and haplotyping
- Support assay development, verification, and workflow optimization for PGT-M
PGD-SEQ key features
- Access to 500+ gene panels covering a broad range of monogenic disorders
- Targeted amplification of disease-associated loci and informative SNP markers
- Simultaneous analysis of multiple targets
- Designed for use with Ion GeneStudio S5 System
- Reagents and software provided for targeted PGT-M
- Supports analysis of up to 15 samples per kit
- Two primer pool designs are available for high-frequency conditions, supporting more robust mutation detection
- Optional sex determination can be included as an additional quality control measure without changes to sample processing
Advanced haplotyping and linkage analysis
PGD-SEQ kits enable comprehensive familial assessment using proprietary linkage analysis software. SNP markers flanking regions of interest allow researchers to construct haplotypes and track inheritance patterns, supporting robust evaluation of variant transmission in research studies.
Expanded functionality, design flexibility, and research benefits
- Compatible with Ion ReproSeq PGS Kit, enabling combined PGT-M and PGT-A analysis from a single sample
- Enables simultaneous mutation detection and linkage analysis within a unified workflow
- Improves robustness of variant interpretation with haplotype confirmation and informative SNP coverage
- Two primer pool designs include coverage of full coding and untranslated regions, enhancing detection sensitivity
- Facilitates scalable, reproducible targeted NGS workflows for PGT-M research
PGD-SEQ integration with the Ion GeneStudio workflow
Combine the PGD-SEQ kit with Ion ReproSeq PGS kit using the Ion GeneStudio S5 System for a simple, scalable and automated sample-to-answer workflow solution that includes PGT-M and PGT-A results from single research sample.
PGD-SEQ service and support
Service and support for the PGD-SEQ kits, design and software analysis are provided by our partner, Journey Genomics, S.L.
Support for Ion Torrent sequencers is provided by the Thermo Fisher Scientific team. To learn more about service and support for Ion Torrent reproductive health assays, visit our dedicated page.
PGD-SEQ ordering information
PGD-SEQ frequently asked questions
PGD-SEQ research panels are targeted amplification panels designed for use in PGT-M research workflows. They enable amplification of disease-associated loci and informative SNP markers to support variant detection and haplotyping studies.
PGD-SEQ panels include SNP markers flanking regions of interest, enabling researchers to perform linkage analysis and construct haplotypes for tracking inheritance patterns in research studies.
Yes, PGD-SEQ research panels support customization to target specific genes, variants, and SNP markers relevant to particular research applications or study designs.
PGD-SEQ panels are designed for use with low-input DNA samples, including whole genome amplified (WGA) DNA derived from embryo biopsy material, as well as parental or reference DNA for linkage analysis.
PGD-SEQ panels are used for targeted amplification prior to sequencing on Ion GeneStudio systems. The resulting data can be analyzed using the included Journey Genomics’ PGD-SEQ software to evaluate variant detection and haplotyping performance.
*PGD-SEQ is a trademark of Journey Genomics, S.L.
For Research Use Only. Not for use in diagnostic procedures.
PMR: 004035