Highlights across myology

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: Source Type: research