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):

Leukocyte Lysosomal Enzyme Screen

  1. Collect 4-6 ml of whole blood in an EDTA (purple-top) or heparin (green-top) tube. Mix well. Minimum amount is 2 ml. Tube should be kept at room temperature. Do not chill or spin. Send overnight Monday through Thursday only, not on Friday. Send blood in a well-insulated container (e.g. styrofoam box) to keep from getting too hot or cold.
  2. A clinical and/or family history of the patient MUST accompany the sample
  3. A cover letter must be enclosed INSIDE the box with the following information:
    • Patient's full name, date of birth, patient identification number(s), e.g. hospital #, medical record #, laboratory accession #, etc.
    • Name of referring physician, physician's address and phone and fax numbers.
    • Billing address for the facility or patient. We do not bill insurance. We do accept Visa and Mastercard. See billing requirements form for more information.
    • Address for return of results.
  4. Ship via Federal Express or other carrier so that sample arrives preferably within 24 hours of drawing. We do not pay for shipping.
  5. Pack well to protect sample from temperature extremes and breakage. Styrofoam boxes with insulating packing material give the best results.


  • You must follow all guidelines for shipping medical specimens.
  • Use the proper packaging to avoid violating federal laws.
  • Contact carrier in advance if you are not familiar with these regulations.