Biochemical Genetics

The Biochemical Genetics Laboratory at Southmead Hospital provides a regional diagnostic and monitoring service for the investigation of inherited metabolic diseases, and is a member of the UK National Metabolic Biochemistry Network (MetBioNet).  Routine analyses performed include urine organic acids (including quantitative methylmalonic acid, if required), bloodspot/plasma acylcarnitines (including free carnitine), plasma/urine/CSF quantitative amino acids, qualitative galactosaemia screening test, plasma free fatty acids and 3-hydroxybutyrate.

In addition, the laboratory provides specialist testing for the investigation of peroxisomal disorders (plasma very long chain fatty acid analysis, including pristanic and phytanic acids), Smith-Lemli-Opitz syndrome (plasma 7-dehydrocholesterol and 8-dehydrocholesterol), and disorders of galactose metabolism (quantitative galactose-1-phosphate uridyltransferase activity for confirmation of classical galactosaemia; urine galactitol for screening and monitoring of galactokinase deficiency or screening for classical galactosaemia if infant has been transfused;  galactokinase activity for confirmation of galactokinase deficiency; and galactose-1-phosphate for monitoring treatment of classical galactosaemia.

We provide a comprehensive advisory service and welcome enquiries to discuss appropriate patient investigation and result interpretation. Clinical and laboratory advice is available during working hours, via contacts listed.

Details of Sample Requirements and Transport can be found under “Requesting” and “Test Information” via the menu at the top of this page.

For any urgent analyses or additional testing on samples already received, please telephone the laboratory to discuss.

Request form

Useful Links

National Metabolic Biochemistry Network (MetBioNet)
British Inherited Metabolic Diseases Group
Cardiff Porphyria Service

Please see below for responses to our most recent user survey

NBT Biochemical Genetics Service User Survey 2019-2020.pdf