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Test Code Acid Lipase Acid Lipase

Clinical System Name

Acid Lipase Level

Synonyms

LAL

Lysosomal Acid Lipase

Wolman Disease

Cholesteryl Ester Storage Disease

Description

Fluorometric enzyme test for diagnosis of Wolman disease and cholesterol ester storage disease (CESD)

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 2.0 mL

Minimum Vol: 2.0 mL

 

Note:   Also accepted: Yellow/ACD A, B, Dark Green/Sodium Heparin and Blood Spots.

DO NOT USE A GEL SEPARATOR TUBE.

Blood spots: A minimum of 3 full circles are required if using a newborn screening card. Allow blood spots to dry for 3 hr.

Processing Instructions

Reject due to: NA

Spin: N

Aliquot:N

Temp: RT

Storage location: Biochemical Genetics Box

 

Off-site collection: Ship whole blood tube overnight at room temp.  Alternatively, spot blood on a newborn screening card, let dry for 3 hours and ship overnight at room temp (minimum of 3 full circles).

Availability

STAT Performed TAT
N Weekly 7-10 days

 

Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.

Performing Laboratory

Seattle Children's Laboratory    

Department

Department:  Biochemical Genetics

Phone Number: 206-987-2216

 

Reference Range

55 - 850 pmol/hr/spot

Methodology

Method: Fluorometric Enzyme Assay with and without Lalistat inhibition

 

CPT Codes

82657

Special Instructions

Allow blood spot cards to dry for 3 hr; ship whole blood or blood spot card at room temperature.

Requisition

Biochemical Genetics Requisition

 

On the requisition include clinical information needed for appropriate interpretation.  (Age, gender, drug therapy, and family history)

Clinical Utility

Lysosomal Acid Lipase (LAL) deficiency is an autosomal recessive lysosomal storage disease caused by a deficiency of LAL, an enzyme responsible for lipid breakdown. The disease can present in infancy as Wolman disease, or in childhood or adulthood as cholesterol 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 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.

Stability (Dried Blood Spots)

Temperature Time
Room temp 1 week
Refrigerated 1 month
Frozen (-200C) 3 months