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New Study Explores Frequency of Butyrylcholinesterase (BChE) Deficiency in the United States

Posted on: 02 Nov 17
New Study Explores Frequency of Butyrylcholinesterase (BChE) Deficiency in the United States The study is the largest of its kind that examines BCHE genetic variants

PR Newswire

SAN DIEGO, Nov. 2, 2017

SAN DIEGO, Nov. 2, 2017 /PRNewswire/ -- A new study explored the variations of the BCHE gene in ethnic groups in the United States. Patients with severe BChE deficiency have an increased risk of prolonged neuromuscular blockade and respiratory depression in response to succinylcholine, a neuromuscular blocking agent commonly used during surgery. A genetic test can predict the likelihood that a patient will have a BChE deficiency based on variations in the BCHE gene. In the study of 13,301 patients, 8 percent were predicted to have moderate BChE deficiency while 0.06 percent were predicted to have severe BChE deficiency. The study was conducted by CogenDx, the genetics brand of Millennium Health, LLC.

"Patients who undergo surgery may have varied responses to medications used perioperatively. When patients with BChE deficiency receive succinylcholine during surgery, they may be at risk of adverse events that can be life-threatening," said Andria Del Tredici, PhD, senior director, translational genetics, CogenDx. "Clinicians can check for potential BChE deficiency using our DxSurgical test to identify patients for whom succinylcholine may not be appropriate. Understanding a patient's genetic risks can help clinicians make more effective medication and management decisions for patients undergoing surgery."

The study analyzed specimens submitted for pharmacogenetic testing at Millennium Health, and revealed Caucasians had the highest frequencies of both severe and moderate BChE deficiency, while African-Americans, Asians and Hispanics had lower frequencies. 

The study was presented in a poster session at the American Society of Human Genetics Annual Meeting on Oct. 18.

About CogenDx
CogenDx, the genetics brand of Millennium Health, LLC, enables clinicians to personalize treatment decisions for patients using state-of-the-art molecular diagnostic technology. Our portfolio includes a proprietary DNA-based solution that helps clinicians rapidly determine course of therapy for patients with suspected wound infections. We also offer genetic testing that helps predict response to commonly prescribed medications and determine genetic risks underlying potential surgical complications. More information can be found at


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Last updated on: 02/11/2017

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