New Test to Screen for Fragile X Syndrome
Posted on: Thursday, 19 April 2007, 18:00 CDT
A new automated test could enable population screening to identify carriers of the gene mutations causing fragile X syndrome, says a U.S. study.
Fragile X syndrome, the most common inherited form of mental retardation, affects approximately 1 in 3,600 boys, causing mental retardation, behavioral problems such as attention-deficit/hyperactivity disorder and certain physical abnormalities.
The disease also occurs in 1 in 4,000 to 6,000 girls, causing less severe impairment.
This new assay (test) has shown 100 percent sensitivity and at least 99.5 percent specificity for carrier detection of FXS, lead author Dr. Charles M. Strom of Quest Diagnostics said in a statement.
The findings are published in the journal Genetics in Medicine.
Although formal cost evaluations have yet to be performed, the costs of the new test appear similar to those of accepted tests used to screen for other genetic diseases, such as cystic fibrosis, according to the study.
Source: United Press International
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