PGT-A Testi
PGT-A Testi
The GeneMind PGT-A is an advanced preimplantation genetic screening system that detects chromosomal copy number variations (CNV) by analyzing genomic DNA obtained from 5 to 10 cells via embryo biopsy. By seamlessly combining single-cell whole-genome amplification (WGA) with low-coverage next-generation sequencing (NGS) technology, this system provides robust clinical data support to increase the probability of successful pregnancies in in vitro fertilization (IVF) treatments and foster the development of healthy generations.
- High Precision and Comprehensive Screening: Accurately detects 23 pairs of chromosomal aneuploidies and whole-genome microdeletions/microduplications larger than 4 Mb. It also features the capability to precisely identify chimeric (mosaic) abnormalities above 30%.
- Fast and Flexible Workflow: Reduces the turnaround time from sample preparation to final report generation to as little as 12 hours. Fully compatible with both manual and automated laboratory workflows, it can process a batch of 48 samples in approximately 24 hours.
- Advanced Data Analysis and Automated Annotation: The on-premise analysis software automatically annotates detected CNVs against major databases such as OMIM, Decipher, ClinVar, ClinGen, dbVar, and MedGene. It automatically ranks results according to ACMG guidelines, evaluates clinical significance, and generates comprehensive interpretation reports.
- Single-Tube Reaction and Low Input Requirement: Operates efficiently with trace, picogram-level (20-30 pg) genomic DNA released from embryo cells and performs the entire whole-genome amplification via a single-tube reaction.
- Broad Platform Compatibility: Works flawlessly with GeneMind's next-generation sequencing systems (GenoLab M, FASTASeq 300, FASTASeq S, and SURFSeq 5000). It also offers flexible integration with commonly used standard NGS library preparation kits and bioinformatics tools.
