The Genomics Research Centre (GRC) currently undertakes diagnostic testing for familial hemiplegic migraine, epilepsy, CADASIL, episodic ataxia type 2 and spinocerebellar ataxia type 6, utilising Sanger sequencing, as well as a next-generation sequencing (NGS) 5-gene custom panel (CACNA1A, ATP1A2, SCN1A, NOTCH3 and KCNK18). The gene discussed is CACNA1A; the disease is episodic ataxia type 2.