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We report the results of a preconception carrier screening study using components of the Western Australian public health system. Non-pregnant couples were recruited through general practitioners and other healthcare professionals in metropolitan Perth or Busselton, a regional town in the South-West of Western Australia. Couples were tested for 474 genes associated with mostly severe recessive paediatric disorders using a targeted gene panel, as well as for spinal muscular atrophy and Fragile X by standard diagnostic laboratory protocols.
Source: Neuromuscular Disorders - Category: Neurology Authors: S. Edwards, R. Ong, M. Davis, R. Allcock, G. Androga, B. Kamien, K. Harrop, G. Ravenscroft, M. Fietz, N. Pachter, J. Beilby, N. Laing Source Type: research
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