Biochemical Genetics Laboratory at Guy's Hospital

Laboratory overview

The biochemical genetics laboratory, established in 1973, offers a regional, and in some cases national, specialist service for the diagnosis of over 50 genetic biochemical disorders.

We collaborate closely with clinical, biochemical and genetics services at Guy’s and St Thomas’ Trust and Synnovis to facilitate the diagnostic pathway.

The Evelina London Children’s Hospital provides the regional Inherited Metabolic Disease (IMD) service for South Thames, covering London, Kent, Sussex, Surrey and beyond with outreach clinics at Plymouth, Portsmouth, Cambridge and Norwich. Over 300 new patients are seen each year with more than 200 ward admissions. An integral part of this service is the Multi-Disciplinary Team (MDT) approach. The MDT brings together staff with the necessary knowledge, skills and experience to ensure high quality diagnosis, treatment and care. All relevant professionals / disciplines are represented and the team meets regularly to discuss patients.

Membership of the Evelina Metabolic MDT includes Consultant Metabolic Paediatricians, Adult Metabolic Physicians, Metabolic Dieticians, Clinical Nurse Specialists and Healthcare Scientists from Synnovis and The Well Child Laboratory. In view of this we wish to inform all our Users, both internal and external, that any patient with laboratory results that indicate further testing and/or follow up is required, may be discussed with members of the MDT. In the event that urgent clinical follow up is warranted, a member of the MDT may contact the referring clinician directly. By continuing to refer samples to Synnovis you are accepting of this process.

Key features:

The laboratory has a special interest in lysosomal storage disorders, particularly mucopolysaccharidosis, but also carries out testing for disorders of galactose metabolism, urea cycle disorders, amino/organic acid disorders, and peroxisomal disorders. Prenatal diagnosis is available for many of these disorders, and we regularly test samples from around the UK and overseas.

We are also a national centre for Tay-Sachs disease carrier screening in the Ashkenazi Jewish population. Testing is carried out by a combination of enzymology and metabolite analysis (eg urinary glycosaminoglycans).  The Biochemical Genetics laboratory is UKAS accredited medical laboratory No 8688, part of the Supra-Regional Assay Service (SAS) and a member of the UK Genetic Testing Network (UKGTN). Tissue culture facilities are a vital component of the biochemical genetics service and many cell lines are referred to other specialist centres in the UK or abroad for rare disorders.

We carry out the following tests:

• Urine analysis: glycosaminoglycans (mucopolysaccharides) and oligosaccharides.
• Galactose metabolism: galactose-1-phosphate uridyl transferase (classical galactosaemia), galactokinase.
• Mucopolysaccharidosis: All types (Hurler, Scheie, Hunter, Sanfilippo, Morquio, Maroteaux-Lamy, Sly).
• Glycoprotein disorders: Aspartylglucosaminuria, Schindler, α & β-mannosidosis, Fucosidosis, Mucolipidosis / I-cell, sialidosis.
• Sphingolipidoses: Tay-Sachs, Sandhoff, GM1 & GM2-gangliosidosis, metachromatic & Krabbe leucodystrophy, Fabry, Gaucher, Niemann-Pick A/B/C, Wolman, cholesterol ester storage (LIPA deficiency).
• Neuronal ceroid lipofuscinosis.
• Peroxisomal disorders.
• Other: Citrullinaemia, argininosuccinic aciduria, ornithine transcarbamylase, carbamyl phosphate synthetase, propionic acidaemia, pyruvate carboxylase, maple syrup urine disease, Pompe disease (glycogen storage disease type 2).