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Lysosomal Acid Lipase Activity, Blood
Test Code36455
CPT Codes
82657
Preferred Specimen
3 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
0.5 mL
Transport Temperature
Frozen
Specimen Stability
Room temperature: 7 days
Refrigerated: 14 days
Frozen: 28 days
Refrigerated: 14 days
Frozen: 28 days
Methodology
Fluorometric Enzyme Assay
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Tues; Report available: 4-12 days
Clinical Significance
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 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 non- alcoholic 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.
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 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 non- alcoholic 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.
