Lysosomal Diseases Testing Laboratory


Name: Paola Luzi, PhD
Position: Director, Lysosonal Diseases Testing Laboratory
Organization: Department of Neurology


Name: David Wenger, PhD
Position: Co-Director, Lysosonal Disease Testing Laboratory
Organization: Department of Neurology

Contact/Shipping Info

Name: Lysosomal Diseases Testing Laboratory
Department: Department of Neurology
Organization: Thomas Jefferson University

1020 Locust Street
Room 346
Philadelphia, PA 19107

Contact Number(s):

Sample Requirements for Testing in Urine

  1. For sulfatide extraction send at least 10 ml of well-mixed urine (provide any sediment from the sample).  Do not send a very dilute sample. Minimum volume is 5 ml. Urine may be collected and sent overnight Monday through Thursday at room temperature in an insulated container (e.g. styrofoam box). If urine can not be sent immediately, it may be frozen and sent on dry ice.
  2. For sialic acid content screening in urine send at least 2 ml of a random urine sample as detailed above for sulfatide extraction.