Lysosomal Acid Lipase Activity, Blood

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Test Name: Lysosomal Acid Lipase Activity, Blood
Reference Lab: QNI
Test Code: 36455
Shipping Temp: Frozen
Specimen Type: 3 mL whole blood collected in EDTA (lavender-top) tube
TAT: 5-13 days
CPT Code: 82657
Cost: _
Additional Comments: _
FDA Approved Test: YES_ NO_ LDT_
Medical Director/Pathologist: approved by
Billing Completed by_ Date_ Time_


Test Code
QNI FLEXI 36455


Quest Code
36455


Alias/See Also
36455


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


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
Night Sets up 1 day a week.


Report Available
Reports in 4 to 12 days.


Reference Range
69-203 pmol/hr/uL


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.


Performing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano, CA 92675-2042



The CPT Codes provided in this document 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 payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.