Philadelphia University + Thomas Jefferson University

Charges for Lysosomal Storage Disease Testing

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
  • Niemann-Pick Type C (requires fibroblasts)
  • 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, 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
  • Limited ($150) or complete ($600) mutation analysis of the arylsulfatase A gene (MLD)
  • Mutation analysis for the common 30 kb deletion in individuals with Krabbe disease: $100
  • Filipin staining of cultured cells for Niemann-Pick Type C: $500
  • Cholesterol Esterification for Niemann-Pick Type C if filipin staining is positive: $800

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

FED TAX ID: 23-2809585    



  • Lysosomal diseases panel - 82657 and 82658
  • Urine sulfatides - 82542
  • Sialic acid content - 84275
  • DNA analysis -  81405 (MLD) & 81406 (Krabbe disease)
  • Tissue lipid extracts - 82489
  • Niemann-Pick Type C - 82658