Arylsulfatase A deficiency, leukocytes-994

Test info

  
Arylsulfatase A deficiency, leukocytes
  
994
  
LAB994
  
MSO
  
ASA deficiency
Metachromatic leukodystrophy (MLD)
MLD
  

Diagnose patient with metachromatic leukodystrophy (MLD)

  
  • This assay does not identify patients with a rare form of MLD due to cerebroside sulfate activator protein deficiency.
  • Unaffected pseudodeficiency homozygotes and compound heterozygotes cannot be distinguished from affected individuals by this assay.
  • ASA activity may not reflect carrier status.

Specimen

  
ACD (A or B) whole blood
  

Yellow ACD (A or B)

 

  
15 mL
  
10 mL
  
  • Collect specimens Mo - Th only; sample must arrive in the laboratory within 4 days of collection
  • Immediately following collection, mix by inverting 8 - 10 times to prevent clotting
  

Yellow ACD (A or B)

  

Refrigerated (strict) - 4 days

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

  
  • Quantity not sufficient (QNS) for analysis
  • Specimen frozen
  • Specimen not received at the performing laboratory within 4 days of collection
  • Incorrect specimen collection tube to isolate white blood cells

Performance

  
LabCorp RTP (402396): R-NX
  
As needed
  
14 days
  

Determination of enzymatic activity with p-nitrocatechol sulfate

Clinical and Interpretive info

  

25.0 - 90.0 nmol/hr/mg protein

Billing

  
82657
  
Result UNLOINC

Tracking

  
06/03/2019
  
04/11/2022
  
04/11/2022