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Retesting Launched for Rare Genetic Disorder



TETERBORO, N.J., April 13, 2000 —

said it has been voluntarily contacting physician clients to arrange for free retesting for certain individuals who received "non-carrier" results from Tay-Sachs Disease carrier testing performed between November 1992 and the end of 1998. Tay-Sachs Disease is a rare inherited disease.

Quest Diagnostics said its medical staff is visiting, phoning and notifying in writing physicians representing the 8,200 individuals recommended for retesting. To date, the company has notified physicians representing more than 90% of the individuals recommended for retesting. The company said its recent analysis of Tay-Sachs statistical data suggested that a group of individuals who received results in the low end of the "non-carrier" range for Tay-Sachs carrier testing performed from late 1992 to late 1998 should be retested. The company said it expects that approximately 99% of individuals being recommended for retesting will remain in the "non-carrier" category.

Quest Diagnostics said that the majority of patients for whom retesting is recommended reside in the New York City metropolitan area. Quest Diagnostics has informed the New York State Department of Health and the New Jersey Department of Health and Senior Services of its plans to notify potentially affected individuals through their physicians.

Individuals who received testing performed by MetPath, MetWest, Corning Clinical Laboratories or Quest Diagnostics from 1992 to 1998 are advised to speak to the doctor who ordered their original carrier test to determine whether retesting is recommended. In addition, more information is available by calling 800-871-6079. Physicians may obtain more information about their patients and the retesting program by calling 800-871-6079. For purposes of retesting, Quest Diagnostics will require a blood sample. Quest Diagnostics will cover the cost of retesting, including office visits, if necessary. Professional staff, including physicians and genetic counselors, are available at all times for consultation.

Tay-Sachs Disease is a rare, degenerative disease that attacks the central nervous system. Approximately 15 infants are diagnosed with the disease each year in the U.S. and Canada. Approximately 0.3% of the population of the U.S. and Canada carries the gene for the disease. This rare disease is principally found in certain ethnic populations, particularly Ashkenazi Jews of Eastern European descent. Other groups with above-average incidence include French Canadians and Louisiana Cajuns. Testing is performed to identify carriers of the gene that causes the disease. Before the advent of testing in the 1970s, the incidence of Tay-Sachs Disease was approximately 60 new cases per year in the U.S. and Canada, 80% of which affected Ashkenazi Jews. Today, carrier testing is common in the Jewish community where it has resulted in a dramatic decline in the incidence of the disease. Approximately 35,000 people are tested annually in the U.S. and Canada.

Quest Diagnostics is the nation's leading provider of diagnostic testing, information and services. The testing performed on human specimens helps doctors diagnose, treat and monitor disease; enables employers to detect workplace drug abuse; and supports pharmaceutical and biotechnology companies in clinical trials of new therapeutics worldwide. Quest Informatics analyzes laboratory and other medical data to help health care providers improve the care of patients. Additional company information can be found on the Internet at:


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