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):

Tests for individual patients are selected based upon clinical features, previous laboratory and/or radiologic findings, family history, and physician suggestions. Further studies may be indicated by the results of our preliminary testing. The diseases tested for in this laboratory are listed below.

Diseases Tested

  • GM1 gangliosidoses (MPS IVB)
  • GM2 gangliosidoses (all types)
  • Fucosidosis
  • α-Mannosidosis
  • β-Mannosidosis
  • β-glucuronidase deficiency (MPS VII)
  • Metachromatic leukodystrophy
  • Krabbe disease
  • Niemann-Pick Types A & B
  • Multiple sulfatase deficiency
  • Gaucher disease
  • Hurler-Scheie syndromes (MPS I)
  • Fabry disease
  • Maroteaux-Lamy syndrome (MPS VI)
  • Sialidosis (Mucolipidosis I)
  • Galactosialidosis
  • Sialuria
  • Sialic Acid Storage Disease and Salla Disease
  • Mucolipidoses II & III
  • Sanfilippo syndrome Type B (MPS IIIB)
  • Wolman disease (chol. ester storage disease)
  • Pompe disease

All samples must include in the container:

  1. patient clinical / family history
  2. address for return of results
  3. billing address – we do not bill insurance; Visa and Mastercard accepted
  4. If required by your state, enclose a signed consent form

Turnaround time: When samples arrive with the proper information, routine testing will be completed within one week.

Charges: Prices effective 09/01/2014

Preparation of leukocytes and plasma, harvesting of cultured cells, and the performance of assays with controls are included in the charges.

  • Lysosomal enzyme screen: $800
  • Carrier testing for parents of a patient we diagnose: No Charge
  • Testing for one disease because of family history: $300
  • Enzymatic testing for potential hematopoietic stem cell donors and follow-up on recipients: $300
  • Panel for individuals with non-immune hydrops (including GM1 gangliosidosis, MPS VII, Gaucher Disease, sialidosis, galactosialidosis, MPSI, Sialic Acid Storage Disease, Niemann-Pick Types A and B, and mucolipidosis II): $800

Additional testing:

  • Urine sialic acid content: $300
  • Urine sulfatides (includes extraction and thin layer chromatography): $300
  • Lipid extraction of tissue samples with thin layer chromatography analysis: $300

Licenses: CLIA 39D0948425 ; PA 02590 ; NY 8277 ; CA COS 800188 ; CAP 7526627

Fed. Tax ID: 23-2809585    

National Provider ID (NPI): 1326093675

CPT Codes:

  • Lysosomal diseases panel - 82657 and 82658
  • Urine sulfatides - 82542
  • Sialic acid content - 84275
  • Tissue lipid extracts - 82489