Date lodged: 8 June 2018
To ask the Scottish Government whether it plans to review the diagnosis and treatment of the genetic condition, 22q11.2 deletion syndrome, also known as DiGeorge syndrome, and whether it has made any assessment of studies of the condition.
Answered by: Shona Robison 19 June 2018
Prenatal microarray is the test recommended by the Scottish Genetics Consortium for investigation of foetal anomaly. This would detect 22q11 deletion (DiGeorge Syndrome) as well as the vast majority of other significant chromosomal imbalances. Microarray is a standard test in the investigation of congenital anomalies in Scotland.
There is no specific treatment for 22q11 deletion (DiGeorge syndrome) as it can cause a variety of clinical conditions. Accordingly, treatment will depend on what conditions are affecting the patient, however, guidelines for the management of 22q11 deletion (DiGeorge syndrome) in Scotland has been published by the Scottish Paediatric & Adolescent Infection and Immunology National Managed Clinical Network (SPAIIN). These are available on the SPAIIN website: http://www.spaiin.scot.nhs.uk/di-george-review-guidelines/