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 conditions not covered by Medicare, testing may be available upon appropriate consent.
Last Updated:
01/12/2021