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Fragile X Syndrome is one of the most commonly identifiable causes of developmental delay. The variable phenotype includes learning disability, speech and language delay and autistic features with a physical appearance of large prominent ears and macrocephaly.1 Genetic testing is offered to paediatricians in the North West through the fragile X referral service at the regional molecular genetics laboratory, St Marys Hospital, Manchester.
UK guidance includes fragile X testing as a first line investigation in children with global developmental delay.2 American guidelines place emphasis on testing when there is a family history of learning difficulties.3 UK Genetic Testing Network highlights specific criteria and physical characteristics as guidance for testing.4
In this study, data on all fragile X test requests received over a 5-year period were analysed. An audit of the available clinical notes of test positive cases …