EmbgenixTM PGT-A Kit (RUO)

Description

The Embgenix PGT-A Kit RUO provides a complete solution for NGS-based detection of copy number variations CNVs from 310 TE biopsy cells or genomic DNA equivalents. The kit employs PicoPLEX whole genome amplification WGA technology and a streamlined library prep methodology that can be completed in a single tube in about two hours, minimizing hands-on time and the likelihood of sample processing errors. Sequencing libraries produced with the kit are broadly compatible with Illumina platforms and provided unique dual indexes allow for multiplexing of up to 96 samples in a single sequencing run. Resulting data is analyzed using intuitive, cloud-based Embgenix Analysis Software RUO , which employs a proprietary algorithm for CNV detection and provides an array of customizable features and reporting options. Our products are to be used forResearch Use Only. They may not be used for any other purpose, including, but not limited to, use in humans, therapeutic or diagnostic use, or commercial use of any kind. Our products may not be transferred to third parties, resold, modified for resale, or used to manufacture commercial products or to provide a service to third parties without our prior written approval. Back Protocol overview.Starting from gDNA, with automation, in six to eight hours any lab can generate libraries in 96-well format ready for sequencing on an Illumina platform. Back Emgenix PGT-A detection of Chr 18 trisomy.Embgenix PGT-A correctly predicts a full chromosome aneuploidy in Chr18, linked to Edwards Syndrome, in a gDNA sample. Back Segmental aneuploidy detection using the Embgenix PGT-A Kit. Top Embgenix PGT-A correctly predicts two segmental aneuploidies in ChrX, linked to Turner Syndrome, in Coriell gDNA sample NA13019. Bottom Embgenix PGT-A correctly predicts two segmental aneuploidies in Chr8, linked to hydrocephalus, in Coriell gDNA sample NA14485. Back Back Copy number variant CNV classifications applied by Embgenix Analysis Software.Classification categories are listed from highest to lowest priority. Samples interpreted to have multiple different CNVs are classified according to the CNV with the highest priority. Back Study with 22 samples, showing accurate reporting of segmental aneuploidies including size prediction.A panel of genomic DNA samples of known CNV status from the Coriell Institute was analyzed to demonstrate the capacity of the Embgenix PGT-A assay to identify segmental aneuploidies of varying size at different locations across the genome. Each segmental aneuploidy was successfully identified including aneuploidies falling below the 10-Mb size threshold for the assay , with the predicted size of each aneuploidy closely matching the true, established size. As indicated, the underestimated size of the CNV on chromosome 15 in the sample NA20556 was likely impacted by the low mappability of its genomic context. Back Comparison of mosaic detection capability between Embgenix PGT-A and Reproseq.Sensitivity of mosaic detection is compared side-by-side for Embgenix PGT-A and Reproseq, using artificial segmental mosaicisms generated by mixing two Coriell gDNA samples NA05966 and NA10925 containing segmental aneuploidies in different genomic locations. The two Coriell gDNA samples were mixed at the five ratios indicated. CNVs reported by each method are marked as true positives blue arrows or false negatives red squares , with no false positives reported by either method. Back