If a child was tested in the past when they couldn’t identify the gene, should she be retested and if so, if the child isn’t seeing a paediatrician, should this be arranged through the GP or straight to the genetic centre?
The number of genes identified keeps increasing so if tests were done some years ago it could be more specific results from a new test would be helpful. Paediatricians should be able to do the tests but, in this case,, the approach should be through her GP because that was the usual way it was organised in the Health Service and the GP can make a direct referral. To the regional genetic centres.
Question asked and answered at our family’s day 2015