In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published
by EuroGentest in order to assist laboratories in the implementation and accreditation of …

The clinical demand for mutation detection within multiple genes from a single tumour
sample requires molecular diagnostic laboratories to develop rapid, high-throughput, highly …

Background Repeat expansion disorders affect about 1 in 3000 individuals and are clinically
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …

The identification of cell‐free fetal DNA circulating in maternal blood combined with technological
developments, in particular next‐generation sequencing, is enabling the development …

The clinical utility of next-generation sequencing (NGS) for a diverse range of targets is
expanding, increasing the need for multiplexed analysis of both DNA and RNA. However, …

Molecular pathology is an integral part of daily diagnostic pathology and used for classification
of tumors, for prediction of prognosis and response to therapy, and to support treatment …

In the European Union, a rare disease is defined as rare when it affects less than one in 2000
individuals. Approximately seven thousand rare diseases have been described which in …

Results of clinical genomic testing must be reported in a clear, concise format to ensure they
are understandable and interpretable. It is important laboratories are aware of the …

Clinical validity assessments of gene-disease associations underpin analysis and reporting
in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these …

Liquid biopsy testing is a new laboratory-based method that detects tumour mutations in
circulating free DNA (cfDNA) derived from minimally invasive blood sampling techniques. …