Notably, in our cohorts, approximately 1 in 20 individuals with suspected albinism is found to have biallelic pathogenic alterations in HPS-related or CHS-related genes.5 This case is also discussed in a previous report by our group where the benefits of genetic testing over more invasive and labour-intensive haematological approaches for the diagnosis of HPS are highlighted.15 The gene discussed is LYST; the disease is Hermansky-Pudlak syndrome.