To apply evidence based practice to optimise the laboratory diagnosis of muscular dystrophies

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Currently in Australia, muscular dystrophy diagnosis entails detailed biochemical analyses mainly performed within research laboratories. We will use evidence based practice to optimise the laboratory diagnosis of muscular dystrophies, and provide information for genetic and clinical counselling and prevention to improve the standard of service for those with the disease. Assessment of diagnostic efficacy and cost-efficiency will aid in evaluating diagnostic approaches for other rare disorders.