Developmental Disorders

PathWest Department of Diagnostic Genomics offers a comprehensive range of tests for investigation of developmental disorders, including but not limited to:

  • Chromosomal microarray
  • FMR1 CGG repeat expansion analysis (fragile X syndrome) (Covered by Medicare if stated Indications for Testing are met (Items 73300 or 73305))
  • Imprinting disorders analysis (including Prader-Willi syndrome, Angelman syndrome, Russell-Silver syndrome, Beckwith-Wiedemann syndrome)
  • MECP2 gene analysis (Rett syndrome)
  • SMN1 gene analysis (Spinal muscular atrophy)
  • Gene panel or whole exome analysis
For the full range of tests provided and information on sample requirements, please refer to the  Online Test Directory.

For conditions not covered by Medicare, testing may be available upon appropriate consent.

Last Updated: 01/12/2021