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Test ID: LALBS    
Lysosomal Acid Lipase, Blood Spot

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Useful For Suggests clinical disorders or settings where the test may be helpful

Evaluation of patients with a clinical presentation suggestive of lysosomal acid lipase deficiency using blood spot specimens

 

This test is not useful to determine carrier status for cholesteryl ester storage disease or Wolman disease.

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test provides diagnostic testing for patients with clinical signs and symptoms suspicious for lysosomal acid lipase deficiency (LALD).

 

LALD is expressed phenotypically as infantile-onset Wolman disease (WD) or later-onset cholesterol ester storage disease (CESD).

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Fluorometric Enzyme Assay

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Lysosomal Acid Lipase, BS

Aliases Lists additional common names for a test, as an aid in searching

Cholesterol Ester Storage Disease
CESD
Wolman Disease
LAL deficiency
LIPA deficiency
Lysosomal acid lipase deficiency
Acid lipase deficiency
LAL-D
LALD