The laboratory offers a service for diagnosis of a wide range of genetic metabolic disorders (inborn errors of metabolism) by enzyme assay, together with some complementary metabolite and molecular genetics tests. The range of diseases covered includes lysosomal, peroxisomal, amino acid, organic acid and carbohydrate disorders. With therapy by enzyme replacement now coming available for some of the lysosomal disorders, we are particularly interested in this group of conditions and we aim to make rapid enzyme diagnosis to facilitate the earliest intervention in affected patients.
As well as diagnosing affected patients we carry out prenatal diagnosis for most of the diseases in our repertoire following chorionic villi sampling or amniocentesis, and we run a carrier testing programme for Tay-Sachs disease in the Ashkenazi Jewish population, where the carrier frequency is about 1 in 27.
We work in close association with the Paediatric Biochemistry, WellChild and Purine Research Laboratories at Guy’s & St Thomas’ NHS Foundation Trust in providing a comprehensive diagnostic and management service for metabolic patients.