Lysosomal Diseases Testing Laboratory
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:
- patient clinical / family history
- address for return of results
- 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
