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No matter where you are, we continue to be available to support your lab in your work. This winter edition brings together online material, videos and educational resources, helping you keep ahead of the curve.

Don’t forget…Our FAS team can also be contacted online with free support advice

Array quality CNV detection with an NGS panel

This technical note illustrates how the CytoSure® Constitutional NGS assay is as effective as a microarray in calling CNVs and LOH, with the additional ability to be able to detect SNVs and Indels, and all in a single, robust assay.

Array quality CNV detection with an NGS panel Image

New - FISH protocol videos Image

New - FISH protocol videos

Great news! We have updated our FFPE protocol video and even created a brand-new hematology protocol video. We have filmed both videos in the Cambridge (UK) site laboratories with our Field Application Specialist, Gothami Fonseka. Gothami demonstrates the FISH protocols for hematology and FFPE applications, which includes the tissue pretreatment stage of the pathology workflow. 

Detect SNVs, indels and exon-level to whole gene CNVs in breast and ovarian cancer

The SureSeq™ Breast Cancer + CNV Panel has been developed to provide comprehensive coverage of 7 key genes implicated in breast and ovarian cancer, including BRCA1, BRCA2, PALB2 and PTEN. This provides researchers with a single NGS workflow to study clinically relevant aberrations and alleviates the burden of running multiple assays.

Detect SNVs, indels and exon-level to whole gene CNVs in breast and ovarian cancer Image

Simultaneous detection of genetic and copy-number variations in BRCA1/2 genes Image

Simultaneous detection of genetic and copy-number variations in BRCA1/2 genes

Presented at the AMP 2020 virtual meeting, this poster demonstrates the capability of the SureSeq™ Breast Cancer + CNV Panel in combination with Interpret software to detect germline and mosaic CNVs, ranging from a single exon to whole gene, with frequency as low as 30%.

A comprehensive genomic profile for myeloid disorders in a single NGS assay

The SureSeq Pan-Myeloid NGS Panel delivering a comprehensive picture of the genetic make-up of each sample. The panel accurately detects SNVs and indels in genes such as CEBPA, JAK2, CALR and MPL, as well as structural variants including FLT3-ITDs and, importantly, KMT2A-PTDs of all sizes.

A comprehensive genomic profile for myeloid disorders in a single NGS assay Image