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Genetics Lab

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Lysosomal Acid Lipase

Lysosomal Acid Lipase (LAL) deficiency is an autosomal recessive lysosomal storage disease caused by deficiency of LAL, an enzyme responsible for lipid breakdown. The disease can present in infancy as Wolman disease, or in childhood or adulthood as cholesteryl ester storage disease (CESD). Wolman disease is a severe phenotype associated with a clinical spectrum that can include growth failure, malabsorption, steatorrhea, hepatosplenomegaly, failure to thrive and ultimately hepatic failure. Later onset disease may present with hyperlipidemia, liver dysfunction, hepatosplenomegaly, liver fibrosis, and cirrhosis. LAL deficiency may present with findings similar to non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), and alcoholic liver disease. Dyslipidemia (high cholesterol, triglycerides, and/or low HDL) may also be a presenting feature.

Test Name: Acid Lipase Level
Test Code:
ACID LIPASE
Test Description:
Synonyms:
Cholesteryl Ester Storage Disease, LAL, Lysosomal Acid Lipase Analysis, Wolman Disease
Indication:
The test is indicated for individuals with some or all of the following:
- hepatosplenomegaly
- failure to thrive
- hyperlipidemia
- liver dysfunction
- dyslipidemia (high cholesterol, triglycerides, and/or low HDL)
Related Tests:
Clinical Links: Wolman Disease - Genetics Home Reference
Availability:
Mon-Fri
Turnaround Time:
7-10 days
Methodology:
Fluorometric enzyme assay
Reference Range:
>10 pmol/hr/spot
Requisition:
Consent Form:
Sample Requirements: Type
1-2 mL of whole blood in EDTA, or blood (3 full circles) spotted on a newborn screening card (or Whatman 903 blood collection card). Allow blood spot card to dry for 3 hours. The test is done on dried blood spots.

Processing


Shipping
Mail at room temperature.
Samples Received:
Mon – Fri 8:00 am – 5:00 pm PST
Special Considerations:
Cost:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions.
CPT Code:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions.