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Fragile X syndrome testing in the North West
  1. Katie Smith1,
  2. Kate Chandler2,
  3. Daniel Hindley3,
  4. Simon C Ramsden4
  1. 1Royal Bolton Hospital, Manchester, UK
  2. 2Department of Clinical Genetics, St Marys Hospital Manchester, Manchester, UK
  3. 3Department of Paediatrics, The Halliwell Health and Childrens Centre Bolton, Bolton, UK
  4. 4Fragile X Service, NW Molecular Genetics Services at St Marys Hospital Manchester, Manchester, UK
  1. Correspondence to Katie Smith, Royal Bolton Hospital, Minerva Road, Manchester BL4 0JR, UK; Katiesmith101{at}doctors.org.uk

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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 …

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