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Lysosomal acid lipase deficiency-994

Test info

Test name:

Lysosomal acid lipase deficiency

Test number:

994

Excellian order number:

LAB994

Abbreviation:

MSO

Alternate names:

Cholesteryl ester storage disease (CESD)
LAL deficiency
Wolman disease

Useful for:

Diagnose Wolman disease and cholesteryl ester storage disease (CESD) caused by LAL deficiency

Limitations:

This test is not appropriate for the determination of carrier status, as some clinical conditions may result in indeterminate enzyme activity levels.

Specimen

Specimen type:

EDTA whole blood

Collection container:

Lavender (EDTA), 4mL

Volume:

3.0 mL

Minimum volume:

1.0 mL

Collection instructions:

Immediately after collection, mix tube thoroughly by gentle inversion, 8 - 10 times, to prevent clotting

Transport container:

Lavender (EDTA), 4mL

Transport and stability:

Refrigerated - 4 days

Time sensitive; specimen must arrive at the testing laboratory within 4 days of collection.

Reason for rejection:

Specimen clotted
Gross hemolysis
Frozen specimen
Anticoagulant other than EDTA

Performance

Performing lab:

LabCorp RTP (402300): R-NX

Days set up:

As needed

TAT:

14 days

Method:

Determination of enzyme activity against 4-methylumbelliferyl-palmitate

Clinical and Interpretive info

Reference ranges:

An interpretive report will be provided

Billing

CPT codes:

82657

LOINC code:

Result 31208-2

Tracking

Date created:

05/24/2019

Revised date:

04/14/2022

Review date:

04/11/2022