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Date Published: Monday, May 7, 2018
Date Updated: Friday, June 30, 2023

One-of-a-Kind Cystic Fibrosis Screening and Diagnosis Available Only at Westchester Medical Center Health Network

Westchester Medical Center Laboratory Offers Adult and Pediatric Testing to Screen for Six Times More Mutations than Common Test

news item
VALHALLA, N.Y. (May 7, 2018) – Westchester Medical Center, the flagship of the Westchester Medical Center Health Network (WMCHealth), is now the only hospital in the New York metropolitan area that can provide the fastest and most precise genetic testing available for cystic fibrosis, a chronic and often fatal disease that primarily affects the respiratory and digestive systems of children and young adults.

The test is currently available to patients at Valhalla's Westchester Medical Center and network affiliate Maria Fareri Children's Hospital, the only nationally accredited Cystic Fibrosis Center in the Hudson Valley.

The test screens for 139 mutations that are responsible for more than 95 percent of cystic fibrosis cases. The test can be used to diagnose children, including newborns, and to screen prospective parents for possible genetic risks. This quicker test is far more definitive than the more commonly available tests and allows for earlier, more personalized treatment, based on the specific mutations. The earlier cystic fibrosis can be diagnosed and the faster treatment can begin, the more effective it can be for the patient.

"This transformative diagnostic offering will help families avoid long waiting periods for results, false positives and additional testing," said John Fallon, MD, Director of Pathology at Westchester Medical Center. "If medical treatment is needed, they will be able to receive it in a timely fashion, which is so vital in the treatment of cystic fibrosis."

This is the first in vitro diagnostic test using cutting-edge next-generation sequencing (NGS) technology that has been cleared by the Food and Drug Administration.

The WMCHealth test can identify 139 mutations, compared to only 23 mutations in more commonly available cystic fibrosis tests. This improves the detection rates for couples at risk to 91 percent, as opposed to 72 percent with the more common test.

WMCHealth's cystic fibrosis test is available to pediatric clinicians in the Hudson Valley and beyond.