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A Enzymatic DBS Test Can Confirm A Diagnosis of LAL-D1,2

The DBS (dried blood analysis) test is highly accurate and easy to prepare, transport, and interpret, facilitating testing in high-risk populations.2,3

Preparation

A blood sample is spotted onto the DBS card; once completely dry, LAL activity is measured using a specific LAL inhibitor.2

Storage

DBS can be stored at room temperature for short periods or at -20 degrees C for longer periods.2

Transport

DBS can be easily shipped via regular mail.3

RESULTS
CLINICAL INTERPRETATIONS
Affected
LAL-D CONFIRMED by reduced LAL activity
Interderminatei
REPEAT with fresh sample
Not affected
RULES OUT LAL-D
i LAL above cutoff for affected,but below the normal reference range4

What Else You Should Know

  • Measurement of LAL activity in fibroblast and leukocyte samples can also be used to test for LAL-D.5

  • Testing for LAL-D may be simplified through the use of an electronic medical record (EMR) system.

  • If the LAL-D DBS test is available through your EMR system, create a preference list that includes LAL-D among the tests that you typically order for a liver or lipid diagnostic workup.

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