The laboratory provides a high quality service for the enzymatic diagnosis of a wide range of genetic metabolic disorders. Some complimentary metabolite tests and molecular tests are undertaken in collaboration with associated laboratories to facilitate the diagnostic pathway.
The service offers tests for patient diagnosis, prenatal diagnosis and carrier testing. Tissue culture facilities are a vital component of the biochemical genetics laboratory and many cell lines are referred to other specialist centres in the UK or abroad for rare disorders. With the introduction of potential treatments for some disorders, tour laboratories are introducing strategies for earlier/ rapid diagnosis and monitoring of treatment efficacy.
Many metabolic conditions are individually rare and services are offered as part of a tertiary specialist service. Referrals are accepted from across the UK and on an international basis. The Biochemical Genetics laboratory is also a national centre for Tay-Sachs disease carrier screening in the Ashkenazi Jewish population.
