I need information on a genetic condition, where do I go?
The GeneReviews part of the GeneTests website is always a good place to start. It is always important to bear in mind that availability of testing, and services, may well vary locally. UKGTN and EDDNAL (an European website) are good websites for checking which labs do which tests. The Oxford Desk Reference - Clinical Genetics (Oxford Desk Reference Series) by Firth, Hurst and Hall gives short and to the point descriptions of many genetic conditions. These are good starting points but it may be necessary to do a literature search to look at primary information sources. It is always wise to check any new information you are giving to families with a senior colleague.