Lysosomal Acid Lipase Def

Test ID: 

706640

CPT code:

82657

Synonyms:

Cholesteryl Ester Storage Disease (CESD)
Wolman Disease

Clinical Use:

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

Specimen Type:

Whole blood (EDTA) or dried blood spot

Requested Volume: 

3 mL whole blood or two circles dried blood spot

Minimum Volume: 

1 mL whole blood or one circle dried blood spot

Container Type: 

Lavender-top (EDTA) tube (whole blood) or Whatman Protein Saver Card 903 (dried blood spot)

Storage Instructions:

Whole blood: Refrigerated transport must arrive at testing facility within 72 hours of collection. Dried blood spot: Maintain specimen at room temperature

Expected Turnaround Time:

1 to 2 Days

Rejection Criteria

Whole blood: specimen clotted; gross hemolysis; frozen specimen; anticoagulant other than EDTA. Dried blood spot: Clotted; gross hemolysis; sample not properly dried; serum separated from cells.