News and press

How steroid metabolite analysis helped to diagnose a virilised (masculinised) female baby with 3BHSD deficiency.

There is a revolution taking place in genetics No longer will genetic testing a confirmatory test but the starting point Personalised medicine will become the norm New technologies need to be rapidly introduced into pathology

Three new assays have been introduced into Viapath’s Toxicology Unit at King’s College Hospital. They are for identifying pregabalin, gabapentin and methylphenidate in urine Requesting these assays may aid clinicians to monitor adherence to treatment, and/or detect illicit use of these drugs.

Around 15% of pregnancies end in miscarriage; identifying the cause of pregnancy loss is important for couples and may be critical for the management of their future pregnancies. • The finding of chromosome imbalance in samples from miscarriages can provide a reason for pregnancy loss, may predict the risk of recurrence of miscarriage and inform reproductive options for couples. • Genetic investigation of recurrent miscarriage (defined as three or more miscarriages) is funded by the NHS. • Viapath’s combined QF-PCR/array CGH approach detects more abnormalities than previous techniques.

Analysis of an unknown substance can be extremely useful in clinical diagnosis. Substances ranging from powders and pills to herbal material, cigarette stubs and liquids can be analysed using high-resolution accurate mass spectrometry. Viapath’s Toxicology Laboratory determined the components of a ‘diet pill’ bought online.

Diagnosis of skin cancer, and in particular non–melanoma skin cancer, has been steadily increasing. Current methods for frozen tissue sectioning are inadequate and imprecise Dr Guy Orchard gives an assessment of two new pieces of equipment on offer that are proposed to improve efficiency and accuracy in histology

Respiratory tract infections are a major cause of morbidity and mortality, particularly in the very young, elderly and those with underlying health conditions Viapath has made significant advances in the testing of respiratory tract infections This has resulted in better patient outcomes and improved hospital practices

The main objective of Rare Disease Day is to raise public awareness of rare diseases Viapath’s Rare Disease Day event, focused on phenylketonuria (PKU), a disease that affects 1 in 10,000 babies a year and is diagnosed through the Newborn Bloodspot Screening programme