Test Overview

Test Methodology

Fluorometric Enzyme Assay

Test Usage

Deficiency of lysosomal acid lipase (LAL) results in 2 clinically distinct phenotypes, Wolman disease (WD) and cholesteryl ester storage disease (CESD). Both phenotypes follow an autosomal recessive inheritance pattern and are caused by mutation in the LIPA gene.

Reference Range*

> or =21.0 nmol/hour/mL

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Details

Days Test Performed

Varies

Analytic Time

10 - 18 days

Soft Order Code

LALB

Laboratory

Sendout

Laboratory Reference

Mayo LALB

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Specimen Requirements

Offsite Collection Instructions

Draw blood in lavender, ACD or green top tube. Send whole blood to Specimen Processing refrigerated. DO NOT spin or aliquot

Normal Volume

2 mL

Minimum Volume

0.5 mL

Additional Information

Test sent to Mayo Medical Laboratories.

Billing Information

Fee Codes


CPT Code

82657

LOINC

73958-1, 18771-6, 59462-2

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