Ordering Recommendation

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Dried Blood Spot (DBS): Whatman 903 Protein Saver Card (filter paper).
Whole blood: Yellow (ACD solution A). Also Acceptable: Lavender (K2EDTA), lavender (K3EDTA) or green (sodium heparin).

Specimen Preparation

DBS: Whole blood collected on filter paper by direct puncture and dried.
Whole blood collected by venipuncture in yellow (ACD solution A) or lavender (K2EDTA), lavender (K3EDTA) or green (sodium heparin) and then spotted on filter paper and dried.
Allow blood to completely air dry before transporting for a minimum of 4 hours to overnight. Two circles of whole blood. (Min: 1 circle)
Whole Blood: Transport 1 mL whole blood. (Min: 0.5 mL)

Storage/Transport Temperature

DBS: Room temperature. Also acceptable: Refrigerated.
Whole Blood: Refrigerated. Also acceptable: Room temperature.

Unacceptable Conditions

DBS: Samples transported before blood is dried. Blood not soaked through to the back of the filter paper card. Heavily saturated, clotted, or double-spotted samples. Samples with evidence of milking or squeezing the puncture site or of contamination by alcohol or other liquids.

Remarks

Additional information is required: Clinical indication for testing.

Stability

DBS: Ambient: 1 week; Refrigerated: 1 week; Frozen: 1 month
Whole Blood: Ambient: 3 days; Refrigerated: 3days; Frozen: Unacceptable

Methodology

Quantitative Fluorometry

Performed

Tue

Reported

3-10 days

Reference Interval

0.50 - 2.30 nmol hydrolyzed/hr/DBS punch

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

82657

Components

Component Test Code* Component Chart Name LOINC
2012267 Lysosomal Acid Lipase, DBS Interp 48767-8
2012268 Lysosomal Acid Lipase, Dried Blood Spot 73958-1
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • CESD
  • Cholesterol Ester Storage Disease
  • LAL deficiency
  • LIPA deficiency
  • Lysosomal acid lipase deficiency
  • Wolman Disease
Lysosomal Acid Lipase Activity, Dried Blood Spot