Case studies

Case studies

The impact of NewGene services on the research of its customers is evident in the product development and peer reviewed publications that have been achieved.

NewGene works closely with major international pharmaceutical companies in identifying novel biomarkers, generating regulatory data and in the clinical trials of novel compounds.

Improving genetic diagnosis of Familial Hypercholesterolaemia

NewGene recently played a pivotal role in an ambitious project to improve diagnosis of the common inherited condition Familial Hypercholesteraemia, utilising their expertise in genotyping using the Agena Bioscience MassARRAY® platform to bring significant and ongoing benefits to patients and regional healthcare providers.

This exemplar project demonstrates NewGene’s ability to develop and deliver innovative new clinical assays, integrated within complex clinical research activities that cross a wide variety of disciplines.

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Selected publications

Heart UK and Familial Hypercholesterolaemia

The findings of the AHSN Familal Hypercholesterolameia project were presented as part of the Heart UK conference in September 2015. The abstracts are available in February 2016 edition of Atherosclerosis.

In Development of a regional Familial Hypercholesterolaemia (FH) genetic cascade testing service for the north of England (Tomlin et al, 2016), the strategic approach taken in the north east and north Cumbria is described with funding received from the local academic health science network, the British Heart Foundation and support from industry and academia.

Molecular screening for Familial Hypercholesterolaemia in the north east of England using a two tiered approach (Chaston et al, 2016) presents the “chip and sequence” process in which common mutations are screened in a rapid low cost genotypic test. If no mutation is detected and the clinical phenotype is strong, then patients progress to full gene sequencing. This approach is demonstrated to be effective in reducing the time to diagnosis bringing benefits to patients and to be cost efficient.

The study also identified rare mutations in the APOE gene in the north east population, Identification of two rare APOE mutations associated with Familial Hypercholesterolaemia in the north of England, McAnulty et al, 2016.

Molecular subgrouping of medulloblastoma:

Bridging the divide between research and the clinic using low-cost DNA methylomics

NewGene, working in collaboration with researchers at Newcastle University and Agena Biosciences, have contributed to development and validation of a new disease subgrouping assay utilising the MassARRAY® platform. This has a significantly faster turn-around-time, reduced sample quantity requirement and lower cost than the previously used test system.

The assay is now in routine clinical use, improving the care delivered to patients across the UK. As the only Agena certified service provider in the country, NewGene is uniquely placed to provide this service.

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Clinical Performance Evaluation of the Biocartis Idylla™ NRAS-BRAF Mutation Test

NewGene recently provided laboratory services to Biocartis NV, contributing to the clinical performance evaluation required for CE marking of the NRAS-BRAF Mutation Test performed on the Idylla™ sample-to-result PCR based molecular diagnostics system. In total, 235 samples were analysed using MassARRAY® as the Comparator test to which results generated by Idylla™ systems placed at the NewGene labs were compared.

Concordance between the Idylla™ NRAS-BRAF mutation test and the MassARRAY® test was in excess of 98% for NRAS and 100% for BRAF genes.


NewGene contributes to its customers' innovative research and supports the publication of results in peer reviewed journals.

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NewGene Limited
Bioscience Building
International Centre for Life
Newcastle upon Tyne

Tel: +44 (0)191 241 8769
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NewGene Limited | Company Number: 06735445

Technology Partners

Agilent Technologies

Agena Bioscience


Sophia Genetics



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