Thomas Jefferson UniversitySidney Kimmel Medical College

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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
  • GM2 gangliosidoses
  • Fucosidosis
  • α-Mannosidosis
  • β-Mannosidosis
  • Mucopolysaccharidosis VII
  • Metachromatic leukodystrophy
  • Krabbe disease
  • Niemann-Pick Types A & B
  • Multiple sulfatase deficiency
  • Gaucher disease
  • Pompe disease
  • Hurler-Scheie syndromes
  • Fabry disease
  • Maroteaux-Lamy syndrome
  • Sialidosis
  • Galactosialidosis
  • Sialuria
  • Sialic Acid Storage Disease and Salla Disease
  • Mucolipidoses II & III
  • Sanfilippo Type B
  • Niemann-Pick Type C (requires fibroblasts)
  • Wolman disease (chol. ester storage 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

CHARGES: Prices effective 09/01/2010

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

  • Lysosomal enzyme screen: $700
  • 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
  • Acid lipase for Wolman disease and cholesterol ester storage disease: $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): $700

Additional testing: Laboratory authorization is required for these tests.

  • Urine sialic acid content: $150
  • Urine sulfatides (includes extraction and thin layer chromatography): $250
  • Lipid extraction of tissue samples with thin layer chromatography analysis: $250
  • Limited ($100) or complete ($600) mutation analysis of the arylsulfatase A gene (MLD)
  • Mutation analysis for the common 30 kb deletion in individuals with Krabbe disease ($150)
  • Filipin staining of cultured cells for Niemann-Pick Type C: $400
  • Cholesterol Esterification for Niemann-Pick Type C if filipin staining is positive: $800

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

FED TAX ID: 23-2809585    

NATIONAL PROVIDER ID (NPI): 1326093675

CPT CODES:

  • Lysosomal diseases panel - 82657 and 82658
  • Urine sulfatides - 82489
  • Sialic acid content - 84275
  • DNA analysis - 83890
  • Tissue lipid extracts - 82489
  • Niemann-Pick Type C - 82658