David Wenger, PhD, Director
Department of Neurology
Jefferson Alumni Hall 394
1020 Locust Street
Philadelphia, PA 19107
Phone: 215-955-4923
FAX: 215-955-9554

The Lysosomal Diseases Testing Laboratory at Jefferson Medical College specializes in the diagnosis of patients, identification of carriers and prenatal testing of at-risk pregnancies for this group of genetic diseases.

Under the direction of David A. Wenger, Ph.D., this laboratory was started in 1974 and currently receives the largest number of samples for these diseases in the world. Selection of tests to be performed is based on clinical and family history that is required with each sample and suggestions from the healthcare provider sending the sample. This laboratory has diagnosed nearly 2500 patients with these disorders and is prepared to lend its expertise in test selection and the availability of carrier and prenatal testing.

In addition, the laboratory monitors the enzyme levels of many patients who have had hematopoietic stem cell transplantation after diagnosis by this laboratory. Ongoing research projects, mainly related to Krabbe disease, are aimed at understanding the pathobiology of this disease and developing effective therapies initially using animal models.

Please visit the Thomas Jefferson University Lysosomal Diseases Testing Laboratory web site for more information.