Pompe Disease Enzyme Analysis-994

Test info

  
Pompe Disease Enzyme Analysis
  
994
  
LAB994
  
MSO

Specimen

  
Blood Spot
  
6 blood spots
  
3 blood spots
  

Dried blood spot collected from a finger stick or from whole blood collected in a lavender-top (EDTA) tube spotted onto Integrated Genetics-supplied and validated filter paper card. Fill 6 circles completely with blood.

  
  • Whole blood must be spotted on the filter paper card prior to sending sample.
  • Allow filter paper to dry thoroughly before placing in specimen envelope and zip lock bag for shipment.
  • Refrigerate after collection.
  

Transport card refrigerated

  

Integrated Genetics-supplied and validated filter paper card can be obtained from the Central Laboratory Supply Catalog upon request.

  

Transport card refrigerated - 4 days

Ambient - no (strict)

Frozen - no (strict)

Due to limited stability of this assay, and to allow for the sample to reach LabCorp, this should only be collected and shipped Monday- Thursday only

 

  

Shipped frozen

Performance

  
LabCorp (451830): R-LC
  
2 x week
  
6-8 days
  

Determination of enzymatic activity with 4-methylumbelliferyl-?-D-galactopyranoside

Clinical and Interpretive info

  

See report for interpretation

Billing

  
82657

Tracking

  
11/01/2022
  
08/15/2023