Horizon Diagnostics

Horizon Discovery
MetaGene Pty Ltd, Pathology, Histology, Cancer Research, MetaGene, Horizon Diagnostics

Sanger Sequency

DNA sequencing data generated using the Sanger method is often limited by poor quality in the first 15-40 bases of the sequence due to primer binding and by a maximum possible read length of about 700-900 bases with significant deterioration in quality thereafter.

Further to this, use of Sanger sequencing to detect nucleotide polymorphisms requires that secondary alleles are present in at least 20% frequency, leaving a potential for false negative results in samples around or below this frequency.

Next-Gen Sequencing

Routinely Monitor The Absolute Sensitivity And Specificity Of Your Assay

Horizon has developed Q-Seq HDx reference standards, a portfolio comprising multiple format samples to support the analysis and validation of Next Generation Sequencing (NGS) workflows. This enables you to:

• Validate your NGS platform and assay
• Analyse and evaluate variant calling sensitivity
• Accurately quantify the limit of detection for each variant
• Utilise the breadth of variants to understand assay specificity


A consistent source of positive and negative reference material on one slide offering of an industry standard for development and quality control of Immunohistochemistry (IHC) assays, directly improving the accuracy and reproducibility.


Fluorescence In-Situ Hybridization (FISH) is a technique that uses fluorescent probes that only bind to certain parts of the chromosome. Developed in the early 1980s by biomedical researchers, it is used to identify the presence or absence of DNA sequences on chromosomes. FISH can also be used to detect specific RNA targets (mRNA, lncRNA and miRNA) in circulating tumour cells and cell tissues.

MetaGene Pty Ltd, Pathology, Histology, Cancer Research, MetaGene, Horizon Diagnostics

Genomic DNA

Genomic DNA is an ideal tool to establish the limit of detection of molecular assays, but to be effective it must be extracted from cell lines with precisely controlled copy numbers and allelic frequencies, which is not easily achievable with patient derived cell lines.

HDx Reference Standards therefore represent an ideal solution, due to the highly characterised, reproducible nature of the cell lines used to generate the DNA.


Definition: FFPE or Formalin-Fixed Paraffin-Embedded is a method of preservation of cell tissues used extensively in profiling gene expression. FFPE Samples can be stored at room temperature and therefore avoid the complexities and risks of freezing.


Ensure that your results are accurate when setting up targeted NGS, RTPCR or RT-qPCR fusion detection assays

Lead the way with reliable, consistent and defined RNA Reference Standards. The ALK-RET-ROS1 targeted FFPE RNA Fusion Reference Standards are a highly-characterized, biologically-relevant quality control material used to assess the performance of NGS, RT-PCR and RT-qPCR assays aimed at detecting gene fusions. Each section contains formalin-fixed, paraffin-embedded (FFPE) cell line multiplex verified to contain EML4-ALK (Variant 1), CCDC6-RET and SLC34A2-ROS1 fusions.

Cell Free DNA

The emergence of liquid biopsies and non-invasive progression monitoring has resulted in the development of many new Cell Free DNA (cfDNA) assays.

Formalin-Compromised DNA (fcDNA)

The effect of formalin is one factor very difficult to control within a laboratory. The samples received from the biobank may have been treated very differently by different individuals, formalin treatment time leading to very different levels of DNA quality. Similarly, methylation and deamination can result in sequencing errors, the fragmentation that is induced may affect the quantification and the yield extracted and this effect on quality can subsequently affect the amplifiability of the DNA which may provide difficulties during library preparation and a PCR step. FFPE tissues are fragmented and chemically modified making them challenging to use in molecular studies.

Horizon was founded by Dr Chris Torrance and Professor Alberto Bardelli in 2007 when they came across an impressive gene editing platform, rAAV, which enabled the ability to tailor-make cell lines with virtually any genomic modification.

Since teaming up in September 2007 with current CEO and President Research Biotech, Dr Darrin M Disley and President Products Dr Paul Morrill, the company has grown rapidly, with offices in the UK, Europe and the U.S., and now supplies advanced research tools and expert services to over 1,400 organisations engaged in genomics research and the development of personalised medicines around the world, including major pharmaceutical, biotechnology and diagnostic companies as well as leading academic research centers.

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