NOTCH3 GENE ANALYSIS IN CADASIL
CADASIL is an autosomal dominantly inherited disorder characterised by five main clinical features which include migraine with aura, subcortical ischaemic events, mood disturbances, apathy and cognitive impairment. These symptoms vary in frequency with age and duration of disease (Chabriat et al. 2009 PMID:19539236). Pathogenic variants in exons 2 to 24 of the NOTCH3 gene are found in approximately 90% of patients with a diagnosis of CADASIL (Joutel et al. 1997 PMID:9388399). Testing is recommended for patients with relevant clinical features who fulfil the following criteria (1) typical white matter changes on MRI and/or (2) typical findings on skin biopsy and/or (3) positive family history consistent with a diagnosis of CADASIL.
NHSE test directory code: R337 CADASIL. Testing criteria can be found on this webpage: https://www.england.nhs.uk/publication/national-genomic-test-directories/.
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.