Lysosomal Diseases Testing Laboratory
Leadership
Name:
Paola Luzi, PhD
Position:
Director, Lysosonal Diseases Testing Laboratory
Organization:
Department of Neurology
Email:
Paola.Luzi@jefferson.edu
Contact
Name:
David Wenger, PhD
Position:
Co-Director, Lysosonal Disease Testing Laboratory
Organization:
Department of Neurology
Email:
David.Wenger@Jefferson.edu
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):
- 215-955-1666
- 215-955-9554 (fax)
Fibroblast Lysosomal Enzyme Screen
Cultured Cells Lysosomal Enzyme Screening
- 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.
- A clinical and/or family history of the case must accompany the sample.
- 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.
- Ship via Federal Express or other carrier so that sample arrives within 24 hours. We do not pay for shipping.
- 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.