New Lab Test for Fragile X Syndrome

SAN JUAN CAPISTRANO, Calif., July 30 (UPI) — A U.S. researcher says New York state has granted approval for a new test to identify Fragile X syndrome.

The syndrome is considered the leading inherited cause of mental retardation and is the most common known single gene link to autism.


Dr. Charles Strom of the Quest Diagnostics Nichols Institute in San Juan Capistrano, Calif., says New York’s approval is significant because it means Quest’s new genetic analysis technique for Fragile X fulfills quality standards widely regarded in the lab industry as highly rigorous.

“Fragile X can be a devastating diagnosis, given the severe disability it causes many patients,” Strom says in a statement. “While it is highly prevalent, Fragile X is not widely tested for, due in part to technical limitations with conventional tests that our XSense technique largely surmounts.”

Strom and colleagues say they may be offering a laboratory test suitable for screening for Fragile X — especially in female carriers. Women unaffected or slightly affected by Fragile X syndrome are at risk of passing it to offspring.

The test currently in use — the Southern Blot DNA analysis — can take several days or weeks to perform while the Quest test results are reported in about a week for most patients, Strom says.

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