Cystic Fibrosis Test More Accurate
Researchers at Stanford University developed the test, which they hope can help in doctors beginning treatment for the disease sooner. The inherited life-threatening disorder that damages the lungs and digestive system results when cells that produce mucus, sweat and digestive fluids are too think and sticky, reulsting in clogged tubes, ducts and passageways in the body.
"Cystic fibrosis newborn screening has shown us that early diagnosis really matters," said Dr. Iris Schrijver, a professor of pathology at Stanford University, in a news release. "When the disease is caught early, physicians can prevent some of its complications, and keep the patients in better shape longer."
To create the test, researchers used dried blood spots taken from documents when infants were born. While the current test looks for the enzyme trypsinogen, which may be a sign of cystric fibrosis, children with high levels are then tested for other mutations in the cystic fibrosis gene.
However, while the current test only looks for 40 mutations and there are more than 2,000 known versions of the mutation, if a common mutation Is discovered, then the child's genome is sequenced to confirm potentially less common mutatations, according to UPI.
The previous method of screening takes about two weeks, but the new one takes three days or less.
"Ultimately, we would like to develop a broader assay to include the most common and most troublesome newborn conditions, and be able to do the screening much faster, more comprehensively and much more cheaply," said Dr. Curt Scharfe, a scientist at Stanford at the time of the study.
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