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Lysosomal Acid Lipase Deficiency
Test Code10129
CPT Codes
82657<br>Restricted Client Code
Preferred Specimen
3 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
1 mL
Other Acceptable Specimens
1 circle dried blood spot (Whatman Protein Saver Card 903)
Transport Temperature
Whole blood: Refrigerated (cold packs)
Dried blood spot: Room temperature
Dried blood spot: Room temperature
Specimen Stability
Whole blood
Room temperature: Not applicable
Refrigerated: 4 days
Frozen: Unacceptable
Dried blood spot
Room temperature: Maintain at room temperature
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: Not applicable
Refrigerated: 4 days
Frozen: Unacceptable
Dried blood spot
Room temperature: Maintain at room temperature
Refrigerated: Unacceptable
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Whole blood: Specimen clotted • Gross hemolysis • Frozen specimen • Anticoagulant other than EDTA
Dried blood spot: Clotted • Gross hemolysis • Sample not properly dried • Serum separated from cells
Dried blood spot: Clotted • Gross hemolysis • Sample not properly dried • Serum separated from cells
Methodology
Determination of enzyme activity against 4-methylumbelliferyl-palmitate
Setup Schedule
Set up: Varies; Report available: 4-14 days
Reference Range
Unaffected > or = 27.0
Affected < or = 16.0
Affected < or = 16.0
Clinical Significance
Diagnose Wolman disease and cholesteryl ester storage disease (CESD) caused by LAL deficiency.
