KaryoSeq™ is a next‑generation sequencing (NGS)‑based solution for preimplantation genetic testing that enables PGT‑M, PGT‑SR and PGT‑A within a single workflow. It is designed for the analysis of DNA extracted from 3 to 10 trophectoderm cells of human embryos at the blastocyst stage.
Detailed Description
Principle of operation
KaryoSeq™ is based on the MARSALA principle and integrates whole‑genome amplification of single cells using NGS technology to perform, in a single assay, gene locus analysis, chromosomal alterations and SNP linkage through whole‑genome sequencing. The workflow requires the inclusion of an embryo biopsy sample and peripheral blood DNA from relatives to process the data and issue a clinical report.
Clinical applications
The solution is intended for preimplantation genetic testing for monogenic diseases (PGT‑M), chromosomal structural rearrangements (PGT‑SR) and aneuploidy screening (PGT‑A). The provided material indicates its usefulness in families with a high risk of monogenic diseases, families with chromosomal structural abnormalities such as translocations and duplications, and families with a high risk of aneuploidy, including advanced maternal age, repeated implantation failure and recurrent miscarriages.
Benefits
Key results or indicators
This product reports an accuracy rate of 99.9%, coverage of more than 1,000 monogenic diseases and more than 250,000 embryos analysed.
Technology used
The solution combines whole‑genome amplification (WGA), NGS library preparation, sequencing and analysis with ChromGo® software.
Intended user / audience
Solution for molecular diagnostic laboratories with qualified laboratory personnel to perform the procedures.
