Unravelling the tangle of genetic testing : part 3

Abstract

The referring physician (either the primary physician or the specialist) are usually the first to suspect the genetic basis of the condition. Though the differential diagnosis would thus have already been performed, this would usually result in either a possible number of suspect genes or a number of possible mutations within a gene and in most conditions, both of these possibilities. Thus the clinical geneticist has to further dissect the signs and symptoms of the disease so as to focus on the most probable candidate gene.