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Product summary

  • Technology NGS
  • Application Cytogenetics & rare disease
  • Areas of interest Rare disease
  • Panel Size 50 Kb
  • Gene Targets 8 genes, 39 SNPs
  • Aberration Types CNVs, SNVs, indels
  • Mean Target Coverage >300x
  • Recommended DNA input >500 ng high quality DNA
  • Samples per MiSeq® v2 run 16
  • Product No. 601004-16
  • Intended use For research use only; not for diagnostic procedures.



Familial Hypercholesterolaemia (FH) is a genetic condition which results in a high cholesterol level and subsequently leads to a higher risk of early heart disease. It affects approximately 1 in 250 people with around 34 million cases worldwide1.

OGT is offering an optimised NGS panel which has selected the most relevant genes and SNPs implicated in FH, for your research needs. Together with the complimentary Interpret analytical software, the CytoSure® Comprehensive FH NGS platform provides the optimal solution for FH research.

  • Detection of CNVs as well as SNVs with a single assay – enabled by the exon resolution of the targeted genes
  • Pre-optimised content that meets your technical requirements – no more laborious in-house optimisation, decreasing assay development time
  • Bespoke panel content – sequence only what’s relevant for your research
  • Interpret, OGT’s complimentary analysis software – designed to give unparalleled CNV and SNV calling.

Gene targets

Select a gene to view exon coverage examples:

* Exon examples not yet available


CNV and SNV from a single assay

The hybridisation enrichment methodology, combined with our bait design expertise, allows generation of panels with outstanding completeness and coverage uniformity. Together, this allows the areas of CNV to be easily identified within each sample using our proprietary algorithm — delivering an increased understanding of the sample without an increase in cost or time.

Figure 1 shows CNV in LDLR gene shown using IGV from the Broad Institute.


Easily visualise CNVs and SNVs with Interpret software

The Interpret software has been designed to easily visualise CNVs and SNVs, with an intuitive interface to switch between different sets of results. Interpret also has simple to use protocols and filtering options, to easily target the results of interest.

The CytoSure Comprehensive FH NGS panel has the ability to detect CNVs in whole genes, at exon resolution (Figures 2-3) and can target select SNPs that have been implicated in FH (Figure 4). The CytoSure Comprehensive FH panel can also detect SNVs and Indels within genes, as demonstrated by Figure 5.

CytoSure Comprehensive FH Panel workflow

Content selection Image

Content selection

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  • CytoSure Comprehensive FH Panel
Sequencing Image


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  • Illumina sequencers

What our customers say


  1. Goldberg AC, and Gidding, SS. Knowing the Prevalence of Familial Hypercholesterolemia Matters. Circulation, 2016; 133 (11).

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