Lysosomal Diseases Testing Laboratory

Leadership

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

Contact

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):

Fibroblast Lysosomal Enzyme Screen

Cultured Cells Lysosomal Enzyme Screening

  1. Send 2 T-25 flasks of cultured skin fibroblasts or AFC (for non-immune hydrops panel) filled with culture media kept at room temperature. Protect from extreme temperatures.
  2. A clinical and/or family history of the case 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 within 24 hours. 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.

Note:

  • 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.