Whole exome sequencing – FHM1-3, EA2, SCA6, CADASIL, CARASIL, Small Vessel Disease, Epilepsy, Neuromuscular Conditions

Whole exome sequencing 

The GRC is NATA accredited to undertake Whole Exome Sequencing for identification of genetic mutation for the following disorders:

  • Sporadic or Familial Hemiplegic Migraine (SHM or FHM)
  • Episodic Ataxia type 1 and 2 (EA1, EA2)
  • Spinocerebellar Ataxia type 6 (SCA6)
  • Dravet Syndrome
  • Generalized Epilepsy with Febrile Seizures plus (GEFS+)
  • Epileptic encephalopathy (some forms)
  • Rapid-onset Dystonia-Parkinsonism (RDP)
  • Alternating Hemiplegia of Childhood (ACH)
  • Cerebellar Ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS)
  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
  • Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL)
  • COL4A1/COL4A2 leukoencephalopathy
  • Fabry disease
  • Small vessel diseases
  • Related neurological conditions

Cost: $1100 per sample (including GST)

Cost includes analysis and interpretation for specified disorders along with preparation and sending of report to referring clinician or pathology laboratory. Also includes Sanger sequencing of any detected variants rated Variant of Unknown Significance or higher.

Timeframe: 6-8 weeks from sample receipt


Please contact the GRC directly for enquiries of Whole Exome Sequencing in other disorders grcclinic@qut.edu.au or +61 7 3138 0970