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Investigation Familial Hypercholesterolemia

16th December 2016

Posted By Paul Boughton


Oxford Gene Technology (OGT) has expanded its customisable SureSeq NGS panel range with the launch of the SureSeq myPanel NGS Custom FH Panel – allowing fast and cost-effective study of variants in familial hypercholesterolemia (FH).

The new panel delivers both single nucleotide variation (SNV) and copy number variation (CNV) detection on a single small NGS panel assay and allows customisation by ‘mix and match’ of fully-tested and optimised gene and hotspot content. This includes all exons for LDLR, PCSK9, APOB, LDLRAP1, APOE, LIPA and STAP1 and a further 14 single-nucleotide polymorphisms (SNPs). This enables researchers to selectively sequence relevant regions, increasing throughput and saving on reagents.

FH is characterised by high LDL levels leading to early-onset coronary artery disease — treatable with statins. It is well characterised at the molecular level with various genes and multiple point mutations described.

Analysis of mutations is often time-consuming when performed by multiple PCR or Sanger sequencing reactions and around 5-10% of mutations are due to CNVs, requiring further detection by Multiplex Ligation-dependent Probe Amplification (MLPA).

In order to cost-effectively streamline detection, OGT’s FH panel will allow sequencing of all relevant gene regions in one assay.

In addition, hybridisation-based enrichment delivers unparalleled completeness and uniformity of coverage, removing the need for supplementary fill-in by Sanger sequencing and enabling simultaneous detection of SNVs and CNVs.

Detection of CNVs has shown complete concordance with microarray results (the gold standard for CNV detection) in all samples tested by OGT. This means that researchers can analyse CNVs with confidence, removing the need for additional MLPA testing, saving time and costs. OGT also has customisable CytoSure microarrays available for downstream CNV confirmation.





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