Lysosomal acid lipase deficiency

Alphabetical Test listing

Lysosomal acid lipase deficiency-994

  
Lysosomal acid lipase deficiency
  
994
  
LAB994
  
MSO
  
Cholesteryl ester storage disease (CESD)
LAL deficiency
Wolman disease
  

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

  
EDTA whole blood
  
  
3.0 mL
  
1.0 mL
  

Lavender (EDTA), 4mL

  
Two (2) circles dried blood spot
  
  

Whole blood
Refrigerated - 4 days

Dried blood spot
Ambient (preferred)

  

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

  
LabCorp RTP (402300): R-NX
  
As needed
  
9 - 13 days
  

Determination of enzyme activity against 4-methylumbelliferyl-palmitate

  

An interpretive report will be provided

  
82657
  
Result 31208-2
  
05/24/2019
  
05/24/2019