Lysosomal Enzyme Panel
| Disease names | Fucosidosis Fabry disease Hurler syndrome, MPS I α-mannosidosis Sialidosis *available on fibroblasts only GM1 gangliosidosis Gaucher disease Sly syndrome, MPS VII β-mannosidosis |
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| Enzyme Names | α-fucosidase α-galactosidase α-iduronidase α-mannosidase α-neuraminidase *available on fibroblasts only β-galactosidase β-glucosidase β-glucuronidase β-mannosidase |
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| Clinical info | Lysosomal enzymes (acid hydrolases) are responsible for breaking down complex chemicals within a cell. The breakdown products are then eliminated from the cell or reused. A deficiency of any one of these enzymes will lead to a "storage disease" which is usually associated with developmental regression. | |
| Indications | A lysosomal storage disease should be suspected in infants or children with growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient. Prenatal diagnosis and carrier testing via enzyme analysis are not available. | |
| Methodology |
Assays for lysosomal enzymes will employ an artificial 4-methylumbelliferyl substrate and activity is measured using a fluorometer. These are quantitated assays and the units will vary among each enzyme. |
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| Associated Tests | These enzyme tests can also be ordered on an individual basis. Gaucher disease, GM1 gangliosidosis, sialidosis, and Sly syndrome are also part of the hydrops enzyme panel. | |
| Specimen Requirements | Lysosomal enzymes may be measured in cultured skin fibroblasts or leukocytes | |
| Transport | Please contact the laboratory before transporting tissue for enzyme assay. The laboratory will separate leukocytes for assay if a blood sample is sent. Send a green top tube (7-10 ml) by courier or 24 hour delivery - not frozen. Insure that the specimen will not freeze or get above room temperature during shipment. Fresh tissue for culture (skin biopsy, etc.) should be sent by courier or 24-hour delivery. | |
| Turnaround time | 14 days Cell culture can take 1-4 weeks and may lengthen turnaround time. |
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| CPT Codes | 82657 for single enzyme; 82657(x3) for panel | |
| Cost | $200 for single enzyme $600 for panel |
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| Contact | For further information contact Kellie King, MS or Tim Wood, PhD at 1-800-473-9411 | |
Form Needed
Download biochem-lab-request-form.pdf
Have Questions Need Support?
Contact our Laboratory Representative for assistance.
Kellie King, MS, CGC
Biochemical Lab
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.