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 are listed below:
DISEASES TESTED FOR:
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
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Hurler-Scheie syndromes
Fabry disease
Maroteaux-Lamy syndrome
Sialidosis and Galactosialidosis
Sialuria
Sialic Acid Storage Disease and Salla Disease
Mucolipidoses II & III
Sanfilippo Type B
Niemann-Pick Type C (requires loading studies)
Wolman disease (chol. ester storage disease)
Farber disease (requires loading studies) |
**** All samples must include in the container:
- patient clinical / family history
- address for return of results
- billing address – we do not bill insurance
CHARGES:
Preparation of leukocytes and plasma, harvesting of cultured cells, and the performance of assays with controls is included in the charges.
- Lysosomal enzyme screen: $600 (Does not include
Wolman disease)
- Carrier testing for parents of a patient we
diagnose: No Charge
- Carrier testing for other individuals: $250
- Enzymatic testing for potential hematopoietic
stem cell donors and follow-up on recipients:
$250
- Wolman disease testing: $250
- 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): $600
Additional testing: Laboratory authorization is required for these
tests.
- Urine mucopolysaccharide screen (acid albumin turbidity
test): $125
- Urine sialic acid content: $125
- Urine sulfatides (includes extraction and
thin layer chromatography): $200
- Radiolabeled lipid loading studies in cultured cells:
$350
- Lipid extraction of tissue samples with thin
layer chromatography analysis: $200
- DNA analysis of the arylsulfatase A gene to
identify the pseudodeficiency allele and the
two most common mutations causing late infantile
and adult MLD: $100
- DNA analysis for certain mutations causing
Krabbe disease:
$100
- 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 License: 39D0948425 PA License: 025950
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
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