The Genetics Centre at Guy’s and St Thomas’ NHS Foundation Trust comprises a Clinical Genetics department, DNA Diagnostic Laboratory, Cytogenetics Diagnostic Laboratory and Biochemical Genetics Laboratory. All three laboratories are CPA accredited, and are situated together on floor 5 Guy’s Tower. The Clinical Genetics department is nearby on floor 7 of New Guy’s House. This centre provides a service to the former South East Thames NHS region, with an estimated population of 3.8 million. The Genetics Centre is a member of the South East England Genetics Network (SEEGen), which is a consortium comprising laboratories and genetic clinics within South East England serving a total population of 14.2 million. In addition, the laboratories receive a large number of national and international referrals for an increasing number of highly specialised genetic tests.
The diagnostic DNA Laboratory provides a clinical molecular genetics service for several genetic disorders, such as Duchenne muscular dystrophy, congenital muscular dystrophies, Huntington disease, inherited predisposition to breast cancer and spinal muscular atrophy. The laboratory also offers, using a revolutionary approach developed in-house, preimplantation genetic diagnosis (PGD) for a number of disorders, in partnership with the Trust’s Assisted Conception Unit and PGD Centre.
The Laboratory receives samples from within the former SE Thames Region, and is the nationally funded referral laboratory for genetic testing of congenital muscular dystrophies. It also receives international requests for the specialist tests offered, including the congenital and Duchenne muscular dystrophies, Alport syndrome, and spinal muscular atrophy with respiratory distress. The Laboratory is a member of the UK Genetic Testing Network (UKGTN), and receives a large number of referrals through this network. A number of tests have been rationalised between the five major molecular genetics laboratories within SEEGEN to provide a cost-effective and efficient genetics service for SE England.
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. The laboratory is a member of the Supraregional Assay Service and the National Metabolic Biochemistry Network, which means tests are available to any referring source in the UK or abroad. It also works in association with the Paediatric Biochemistry, WellChild and Purine Research Laboratories of Guy’s and St Thomas’ NHS Foundation Trust, in providing a comprehensive diagnostic and management service for metabolic patients. As well as diagnosing affected patients the laboratory carries out prenatal diagnosis for most of the diseases in its repertoire, and runs a carrier testing programme for Tay-Sachs disease in the Ashkenazi Jewish population.
The Cytogenetics laboratory processes different types of samples for chromosome analysis with the purpose of detecting and interpreting chromosome abnormalities. Blood samples are analysed from individuals with a variety of problems including congenital abnormalities, learning difficulties, reproductive difficulties and sexual development problems. Prenatal diagnosis is performed for chromosomal abnormalities associated with Down, Patau and Edwards syndromes, familial chromosome rearrangements, abnormal ultrasound and serum screen positive pregnancies.
The laboratory is leading the way in clinical molecular cytogenetics. It pioneered the development and introduction of Rapid Prenatal Diagnosis by Quantitative Fluorescence-PCR (QF-PCR), and is implementing other molecular technologies such as Multiple Ligation-dependent Probe Amplification (MLPA) and the use of microarrays to test for subtle abnormalities which are not detectable by conventional cytogenetic analysis.
Additional specialist tests include chromosome breakage studies for a number of chromosome instability disorder disorders including Fanconi anaemia and ataxia telangiectasia, and the highly specialised application of Fluorescence In Situ Hybridisation (FISH) to Preimplantation Genetic Diagnosis (PGD) for known familial chromosome rearrangements.
Team Profiles
Dr Stephen Abbs
Phd Frcp ath SRCS
Director of DNA Laboratory and Consultant Clinical Scientist
Zoe Docherty
PhD, DipRCPath, SRCS
