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Chromosomal microarray analysis proves accurate

2,513 samples taken from patients referred to the laboratory because they had physical or mental features that suggested one of these repetitions or deletions as a genetic cause. The array technique identified the chromosomal problem (too much or too little genetic material in a particular spot) in 8.5 percent of the total group of patients studied. This high resolution genome analysis promise to transform the practice of clinical genetics," said Beaudet.

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.
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Source:Baylor College of Medicine


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