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Test Code LALB Lysosomal Acid Lipase, Blood

Useful For

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

 

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

Reporting Name

Lysosomal Acid Lipase, B

Specimen Type

Whole blood


Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD) or green top (sodium heparin)

Specimen Volume: 2 mL


Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 7 days
  Ambient  7 days

Reference Values

≥21.0 nmol/h/mL

Interpretation

Enzyme activity below 1.5 nmol/h/mL in properly submitted samples is consistent with lysosomal acid lipase deficiency: Wolman disease or cholesteryl ester storage disease.

 

Normal results (≥21.0 nmol/h/mL) are not consistent with lysosomal acid lipase deficiency.

Clinical Reference

1. Bernstein DL, Hulkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58(6):1230-1243

2. Reynolds T. Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis. J Clin Pathol. 201366(11):918-923

3. Pericleous M, Kelly C, Wang T, Livingstone C, Ala A. Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency. Lancet Gastroenterol Hepatol. 2017;2(9):670-679. doi:10.1016/S2468-1253(17)30052-3

4. Pastores GM, Hughes DA: Lysosomal acid lipase deficiency. Therapeutic options. Drug Des Devel Ther. 2020;14:591-601

Day(s) Performed

Friday

Report Available

8 to 15 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LALB Lysosomal Acid Lipase, B 73958-1

 

Result ID Test Result Name Result LOINC Value
62954 Lysosomal Acid Lipase, B 73958-1
36339 Reviewed By 18771-6
36338 Interpretation (LALB) 59462-2

Method Name

Fluorometric Enzyme Assay

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

3. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Biochemical Genetics Test Request (T798)

-Gastroenterology and Hepatology Test Request (T728)