A New Diagnostic Service For Rate Inherited Diseases.

Purpose: As part of the National Genetics Reference Laboratory (NGRL) programme, a new rare disease testing service has been developed. The purpose of this service is to confirm mutations identified by research laboratories to diagnostic standards in order to provide predictive, pre-natal and carrier testing within the extended family, for genetic conditions not offered by the UK Genetic Testing Network (UKGTN). Method: The service will initially focus on point mutation testing (single base substitutions, deletions/duplications of a known number of nucleotides). In order to provide a fast and effective service, a generic sequencing methodology has been developed. All disease specific primers incorporate a universal tag and have a Tm close to 60 degrees C enabling multiple tests to be carried out using the same conditions. Results: The service was launched in May 2003. A down-loadable pro-forma for mutation testing has been designed and is available from www.ngrl.org.uk/Manchester/NGRLMhome.htm. Referrals must be made via a clinical geneticist and are currently being accepted. A review of the workload, referral patterns and effectiveness of the service will be presented. Conclusion: This service is important for individuals at risk of a monogenic disorder that has not made the transition from research to service due to the low incidence of the disease. As part of the development of the service, testing for large deletions/duplications is planned. [ABSTRACT FROM AUTHOR]