Test code: 1292
Effective update from 11/11/2019
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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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