Gene Dossier MCADD

As part of the diagnostic follow up for presumptive positive cases referred from the MCADD newborn screening programme DNA analysis is undertaken. Since the beginning of the MCADD pilot study in 2004 this has been undertaken by Professor Brage Andresen in Denmark as part of the ongoing collaborative study.

It has been agreed by the MCADD Steering Board that this will continue until at least April 2010 when it is expected that a UK Molecular Genetics Laboratory will take on the service.

Any laboratory wishing to provide this service should submit a full gene dossier by May 1st 2009. The evaluation process was developed by the UK Genetic Testing Network (UKGTN) steering group Gene dossier templates can be obtained from the UKGTN website http://www.ukgtn.nhs.uk.

Background epidemiological data from the MCADD collaborative study can be used to help, this is available in Gene Dossier MCADD and overview and early findings.