The GRC offers whole exome sequencing, a targeted gene panel for neurogenetic disorders, as well as targeted mutation testing for single exons for the a variety of conditions including, familial hemiplegic migraine, episodic ataxia, spinocerebellar ataxia, epilepsy, CADASIL and related neuromuscular conditions. All testing is run within the GRC diagnostic laboratory at QUT and is accredited by NATA for the specified indications (NATA accreditation no. 14979).
Next Generation Sequencing – Whole Exome Sequencing
