Lysosomal Enzyme Panel
Hurler syndrome, MPS I
Sly syndrome, MPS VII
|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.|
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.
|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.
|CPT Codes||82657 for single enzyme; 82657(x3) for panel|
|Cost||$200 for single enzyme
$600 for panel
|Contact||For further information contact Kellie King, MS or Tim Wood, PhD at 1-800-473-9411|
The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.