Whole exome sequencing – FHM1-3, EA2, CADASIL, SCA6, Epilepsy

Whole exome sequencing – FHM1-3, EA2, CADASIL, SCA6, Epilepsy

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

  • Familial Hemiplegic Migraine type 1 (FHM1)
  • Familial Hemiplegic Migraine type 2(FHM2)
  • Familial Hemiplegic Migraine type 3 (FHM3)
  • Episodic Ataxia Type 2 (EA2)
  • Spinocerebellar Ataxia Type 6 (SCA6)
  • Epilepsy
  • CADASIL andsmall vessel disease genes
  • Related neuromuscular 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 0874