DNA studies examine the different mutations of the gene for glucocerebrosidase, which can cause Gauchers disease. If both genes are mutated, the person may have the disease or may have the genetic markers for the disease but may not experience any symptoms now or in the future. If only one gene is mutated, the person is a healthy carrier. The genes are located on DNA material which can be analysed from blood samples. DNA studies in the UK are carried out routinely on nine mutations at the Willink Institute, Manchester five mutations at Addenbrooke's Hospital, Cambridge and on four mutations at Great Ormond Street Hospital, London.
All centres can screen for more mutations.
Other centres can send samples to these three centres for testing. However if sufferers or carriers have one of the less common mutations or one that is not yet discovered, these will not be identified. However if N370S pairs with another mutation eg L444P, or there are combinations of other mutations, the severity can be more accurately predicted although yet again symptoms can vary significantly. It should be noted that if one of the mutations is N370S, the disease will remain as Type 1 with no neurological symptoms and will not develop into Types 2 or 3. See bottom of page 2 for more details about the different types of Gauchers disease.