Mitochondrial disorders are challenging to diagnose due to clinical and genetic heterogeneity. Very few people with PRMT7 associated syndrome have been reported in the literature. ES is an established clinical test for the diagnosis of rare genetic disorders. In Scotland, the NHS offers clinical ES for specified disease gene indications. This paper reviews the diagnostic yield of genome sequencing in the NHS Scotland setting, and discusses the economic evaluation of genome sequencing.

Van der Sanden et al. provide evidence that genome sequencing is a valuable first tier test; one reason being that it can identify copy number variants likely to be missed by exome sequencing. Boehm et al. utilise genome sequencing to identify a missense variant in PAX6 associated with diabetes. Koopmann et al. utilised exome sequencing to identify LDB3 variants as a novel cause of cardiomyopathy.