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Test ID LALB Lysosomal Acid Lipase, Blood

Useful For

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

 

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

Genetics Test Information

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).

Method Name

Fluorometric Enzyme Assay

Reporting Name

Lysosomal Acid Lipase, B

Specimen Type

Whole blood


Specimen Required


Collection 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/hour/mL

Day(s) and Time(s) Performed

Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

Test Classification

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

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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions.

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

-Gastroenterology and Hepatology Client Test Request (T728)

-Inborn Errors of Metabolism Test Request (T798)

NY State Approved

Yes