Fabry's disease screening

Fabry's disease Microchapters
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Risk calculators and risk factors for Fabry's disease screening

• There is insufficient evidence to recommend routine newborn screening for Fabry's disease in general papulation.

• According to National society of Genetic Counselors, screening for Fabry's disease for family members of individual affected is recommended by :
  • Measuring alpha-galactosidase activity in men
  • Sequencing the GLA gene in females
  • Prenatal testing
• According to the 2009 Heart Failure Society of America, screening for Fabry's disease is recommended for all men with sporadic or non-autosomal transmission of unexplained cardiac hypertrophy.
• There is insufficient evidence to recommend routine screening for Fabry's disease in dialysis population.