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Test Code LALB Lysosomal Acid Lipase, Blood

Reporting Name

Lysosomal Acid Lipase, B

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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.

Method Name

Fluorometric Enzyme Assay


Specimen Required


Container/Tube:

Preferred: Lavender top (EDTA)

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

Specimen Volume: 2 mL


Specimen Type

Whole blood

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

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

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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.

Day(s) Performed

Friday

Report Available

8 to 15 days

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

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)