The SAS Genetic Enzyme Service was established in 1973 within the Paediatric Research Unit at Guy’s Hospital. The laboratory offers a high quality service for enzymatic diagnosis of a wide range of genetic metabolic disorders, and some complementary metabolite tests. It is available to any referring source in the UK or abroad, and is now administered as part of the Guy’s Hospital Genetics Centre. As well as diagnosing affected patients the laboratory carries out prenatal diagnosis for many diseases, and offers carrier testing for Tay-Sachs disease in the Ashkenazi Jewish population. For diseases where tests are not available, we can advise on where these can be performed, and can also discuss which tests are most appropriate for a given patient.
Director: Chandra Ward MSc
Tel:+44 (0)20 7188 2591
Fax:+44 (0)20 7188 7275
Deputy Director:
Tel:+44 (0)20 7188 2592
Address for specimens:
SAS Enzyme Laboratory
Regional Genetics Centre
5th Floor, Guy’s Tower
Guy’s Hospital
London SE1 9RT
The diseases covered by the laboratory are subdivided into five main categories:
- Lysosomal storage disorders
- Peroxisomal disorders
- Amino acid and organic acid storage disorders
- Disorders of galactose metabolism
- Miscellaneous disorders