Dr Michael Buckley is the Director of the Genetics Laboratories, South Eastern Area Laboratory Services, Sydney, Australia. This is a combined molecular genetics and cytogenetics laboratory that services a direct population of 1.5 M people with a sample throughput of ~8,500 tests per annum. The laboratory is the NSW State Reference Laboratory for the genetic diagnosis of Fragile XA, SMN1, BRCA1&2, Duchenne & Becker Muscular Dystrophy & ZFHX1 testing. At the present time in NSW there are approximately ~500 NSW families with D/BMD involving approximately 4800 first, second and third degree relatives of people affected with D/BMD. Over the past 3 years the Muscular Dystrophy Association of NSW and South Eastern Area Laboratory Services have worked together to improve mutation detection in these families.
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