Overview

Pre-implantation genetic screening and diagnosis (PGS, PGD) refers to testing done to an embryo or oocyte as a part of an in vitro fertilization (IVF) procedure to select embryos that do not have chromosomal disorders or carry familial disease alleles, increasing the chance of successful pregnancy and decreasing the risk of passing on certain genetic disorders. Microarray analysis is the most common PGS technique performed in IVF clinics, and several kits that contain PicoPLEX technology are widely available. These include Illumina’s 24Sure Arrays, Perkin Elmer’s KaryoLite BoBs developed for PSG and Oxford Gene Technology’s CytoSure™ Arrays. Labs are increasingly turning to low pass NGS for these assays and PicoPLEX DNA-seq was developed to fill this need.

Workflow

This assay involves removing a polar body from a fertilized egg or single cells from five to ten embryos on day 3 post fertilization. After the cells are lysed, the released DNA is then amplified and the amplification product labeled and hybridized to a microarray containing genomic targets. Software analysis identifies copy number variations. PicoPLEX WGA technology has become the standard DNA amplification technique for PGS due to extreme robustness and reproducibility. The same PicoPLEX WGA technology can also be applied to genetic characterization of any single cell sample or picogram quantities of isolated DNA.

PicoPLEX Technology*

PicoPLEX uses random primer extension with non-complementary primers to yield a library with a high systematic bias and very low stochastic bias.

Learn more about PicoPLEX WGA Kit.

*Protected by US patent 7,803,550 and EP1924704

PicoPLEX DNA-seq Schematics on canvas v2 072214