PGT‑SR (Preimplantation Genetic Testing for Structural Chromosomal Rearrangements) is a solution aimed at the analysis of structural chromosomal rearrangements in embryos. According to the product literature, it is based on single‑cell whole‑genome amplification and NGS sequencing to detect embryos from patients with chromosomal abnormalities and select euploid embryos for transfer, with the aim of reducing the risk of offspring affected by chromosomal disease.
Detailed Description
Principle of operation
It relies on exclusive single‑cell whole‑genome amplification technology and NGS sequencing. It uses WGS through ChromInst® as its technical principle, and analysis is performed using the ChromGo® platform.
Clinical applications and benefits
Allows the study of structural chromosomal alterations in embryos, including duplications, deletions, translocations, Robertsonian translocations and inversions.
Allows the selection of euploid embryos for transfer in patients with chromosomal abnormalities, with the aim of reducing the risk of children affected by chromosomal disease.
Detection of aneuploidy, sex, mosaicism from 20% to 70%, sibling relationship checking and triploidy/UPD (uniparental disomy).
Key Features
Based on single‑cell whole‑genome amplification and NGS sequencing for embryonic analysis.
Aimed at the study of structural chromosomal rearrangements such as duplications, deletions, translocations, Robertsonian translocations and inversions.
It is necessary to analyse the karyotype of the parents.
Integration with ChromGo® software for data interpretation.
Greater efficiency in each sequencing run thanks to the ability to multiplex with other Yikon product line products.
Presentation Details
Kit configurations: WGA ChromInst / ChromSwift and XK-008/XK-013 or XK-038/-048 libraries
Sequencing requirements: 1M reads (4 Mb) and 4.5M reads (1 Mb), with SE55 read length.
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