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36455: Lysosomal Acid Lipase Activity, Blood Print View
Lysosomal Acid Lipase     pmol/hr/uL 
Interpretation      

PRIMARY
1 Whole Blood EDTA 3 (0.5) mL   Frozen - 28 Day(s)/Refrigerated - 14 Day(s)/Room Temperature - 7 Day(s)  
ALTERNATE
  Dry Blood Spot   Room Temperature - 7 Day(s)/Frozen - 15 Day(s)  

Lysosomal acid lipase deficiency (LAL-D) is a lipid storage disorder with two clinically distinct phenotypes, Wolman disease (WD) and cholesteryl ester storage disease (CESD). Both phenotypes follow an autosomal recessive inheritance pattern and are caused by mutation in the LIPA gene. WD, the early onset phenotype of LAL deficiency, is characterized by vomiting, diarrhea, failure to thrive, abdominal distension, and hepatosplenomegaly. Peripheral blood lymphocytes are vacuolated and foam cells are present in the bone marrow. Approximately 50% of of infants have adrenal calcifications. WD typically presents in the first weeks of life and is fatal in infancy. CESD, the late onset phenotype of LAL deficiency, is clinically variable with patients presenting at any age with progressive hepatomegaly and often splenomegaly, leading to microvesicular steatosis and often liver failure. CESD is likely underdiagnosed and frequently diagnosed incidentally after liver pathology reveals findings similar to nonalcoholic fatty liver disease (NAFLD) or nonalcoholic steatohepatitis (NASH). The LAL-D test is used to evaluate patients with a clinical presentation suggestive of lysosomal acid lipase deficiency and support a diagnosis of disease.
Setup Schedule
Tuesday

Reported (Analytical Time)
4-12 days

CPT Code
82657

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Notes
Methodology: Fluorometric Enzyme Assay
Transport temperature: Frozen
Acceptable Specimen: Dry blood spots (DBS)
Room Temperature: 7 days
Refrigerated : Not established
Stability Frozen at - 20 degrees C: Not stablished
Stability Frozen at - 70 degrees C: 15 days






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