Alpha-galactoside A deficiency-14229

Test info

  
Alpha-galactoside A deficiency
  
14229
  
LAB14229
  
FABRY
  
Alpha-galactosidase-A deficiency
Alpha-galactosidase-A activity
Alpha galactosidase
Fabry disease
Fabry Disease Enzyme Analysis
  

Diagnosis of patients with Fabry disease

  

Due to random X-chromosome inactivation, enzyme results may not reflect Fabry disease carrier status in females

Specimen

  
ACD whole blood (A or B)
  

Yellow ACD (A or B)

 

  
10 mL
  
5 mL
  

Submit entire specimen, unspun

  

Yellow ACD (A or B)

  

Refrigerated - 4 days
Frozen - NO

Specimens must arrive at the testing laboratory within 4 days of collection.

  
  • Quantity not sufficient for analysis
  • Specimen frozen
  • Specimen not received within four days of collection
  • Incorrect specimen collection tube
  • Gross hemolysis
  • Unable to isolate white blood cells

Performance

  
LabCorp Burlington (402388): R-LC
  
7 - 14 days
  

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

Clinical and Interpretive info

  

≥35.6 nmol/hr/mg

  

Signs and symptoms include angiokeratomas, ocular opacities, painful neuropathy in the extremities, progressive renal insufficiency and cardiac hypertrophy. Untreated, death usually occurs in early to mid-adulthood. Treatment is available for individuals with Fabry disease. Confirmation of the clinical diagnosis in affected hemizygous males can be accomplished by demonstration of deficient α-galactosidase A activity in plasma or leukocytes. However, determination of carrier status in heterozygous females typically cannot be accomplished by testing α-galactosidase A activity. Indications for Fabry disease analysis include: family history of Fabry disease and clinical characteristics of Fabry disease.

 

Billing

  
82657

Tracking

  
05/29/2019
  
01/21/2020
  
02/12/2021