Short-Read Sequencing/ SNP Arrays/ Long-Read Sequencing

ChroSure™
Preimplantation Genetic Testing (PGT)

Complete PGT Solution for Complex Cases

Comprehensive PGT solution with Innovation

Berry Genomics is proud to offer a complete portfolio of Preimplantation Genetic Testing (PGT) solutions. By combining NGS and SNPs arrays with pioneering LRS technologies, we address the limitations of current methodologies. Our mission is to expand testing utility and provide answers for even the most complex reproductive challenges, covering aneuploidy (PGT-A), monogenic disorders (PGT-M), and structural rearrangements (PGT-SR).

PGT workflow for difference testing item and samples

PGT-A End-to-End Solution: Efficiency, Speed, and Accuracy

For routine aneuploidy screening, efficiency is paramount. Our PGT-A solution utilizes NGS powered by our proprietary SUGA™ library. Designed for seamless technology transfer to your laboratory, SUGA simplifies the workflow by integrating all experimental steps into a single-tube operation, reducing the waste and minimizing the manual error.

Patented WGA: Our proprietary WGA minimizes amplification bias, ensuring high data fidelity
Rapid Workflow: The single-tube operation saves up to 70% of operational time and completes the library preperation within 3.5 hours
High Sensitivity: Capable of accurately detecting chromosomal mosaicism as low as 30%
Scalability: Fully automation-friendly
Low Transit Cost: The trophoblast sample can be transported with blue ice for a few days

Innovation in Complex Cases: PGT-M and PGT-SR

While our PGT-A streamlines the daily workflow, our PGT-M and PGT-SR solutions demonstrate our commitment to R&D and solving complex clinical scenarios. We offer a tiered approach to ensure every family has a path forward.

Tier 1: ChroSure™ with SNP arrays only (Standard Family Linkage)

For families with available reference samples (probands or grandparents) and enough SNP markers near the known mutation site, we utilize SNP arrays only approach for cost-efficiency. This method employs high-density Illumina SNP arrays to perform family linkage analysis, with an call rate of >99% and reproducibility of >99.9%.

Tier 2: smrtPGT-M/-SR (The LRS Breakthrough)

Historically, families lacking reference samples faced a dead end. Berry Genomics overcomes this with smrtPGT, a breakthrough approach utilizing Long-Read Sequencing (LRS).

How it works: We perform long-read Whole Genome Sequencing (WGS) on parental carrier samples to directly construct haplotypes. This allows us to fully map pathogenic mutations and structural variants along with phased SNP markers without needing a proband or grandparents.
Embryo Analysis: Once the parents are phased via LRS, we apply SNP linkage analysis to the embryos using standard arrays.
Key Advantages: This eliminates the need for reference family members, resolves precise breakpoints for structural variants (e.g. balanced translocations/inversions), and suit for genes/targets located in low informative SNPs region.

Previous work on parental LRS for PGT-M/-SR: Haplophasing of translocation carrier T3:t(1;17)(q21;p13) breakpoints. [1] LR-WGS can generate reliable parental SNPs information and SVs breakpoint for downstream embryo PGT test.

R&D Roadmap:
HiFi lrWGS-PGT for carrier screening, infertility analysis and PGT

Berry Genomics is currently engineering a comprehensive, all-in-one solution for PGT services. We are currently expanding our validation studies with larger sample sets and optimizing the workflow for commercial scalability.

Unified One-Step Workflow

Perform PGT-A, PGT-M, and PGT-SR simultaneously on a single platform

Resolves Complex Regions

Superior coverage for homologous genes, pseudogenes, and tandem repeats often missed by standard NGS

Detects Structural Variants

Directly sequences breakpoints to accurately identify carriers, particular for balanced translocation

Reference-Free Phasing

Enables precise haplotype construction for families lacking a proband or family reference

Identifies De Novo Mutations

Expands diagnostic scope by detecting new mutations arising directly within the embryo

Interested in early access or collaboration? Contact us.

Resources

Brochure

References:

1. M M YC, Yu Q, Ma M, et al. Variant haplophasing by long-read sequencing: a new approach to preimplantation genetic testing workups. Fertil Steril. 2021;116(3):774-783.