Thursday, November 7, 2019

ALPHA GALACTOSIDASE A, SERUM

Reference values Modification

Test code: 1292

Effective update from 11/11/2019



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NEW
        
      alpha-Galactosidase A: 1.95 - 9.20 nmol/h/mL
      beta-Hexosaminidase total: 499 - 2256 nmol/h/mL
      (Beta-Hexosaminidase activity is analyzed as a quality control sample)
      NOTE: Alpha-galactosidase activity in the control range. This result discards Fabry disease at enzyme level but it should be noted that, in 40% of female carriers of this disease are detected alpha-galactosidase activities within the control range. Serum is not the most appropriate sample for the diagnosis of Fabry disease in women, that is why for a definitive diagnosis is recommended GLA gene molecular study.
     
     
      Version of Test: 8
     

        
    2.40 - 10.20 nmol/h/mL
        
     
      Version of Test: 9
     

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