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)
Sample Requirements for Testing in Urine
- 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.
- For sialic acid content screening in urine send at least 2 ml of a random urine sample as detailed above for sulfatide extraction.