More important, the technique found abnormalities in 5.2 percent of patients for whom more traditional techniques had not identified the genetic cause.
"We are constantly improving the test," said Beaudet. Eventually, he said, he hopes to develop tests that will look at greater areas of the genome. However, he said, there are many areas of the genome where all normal people have gains or losses of genetic material compared to the average genome.
"It is difficult to determine if it is causing a problem or not," said Beaudet. Comparing a child’s genome to that of the parents can often determine if this is a normal familial variation or a disease-causing one.
Source:Baylor College of Medicine