Fabry's disease screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Overview
According to National society of Genetic Counselors, screening for Fabry's disease in patient family member is recommended.
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.[1]
- There is insufficient evidence to recommend routine screening for Fabry's disease in dialysis population.
References
- ↑ Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA; et al. (2009). "Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline". J Card Fail. 15 (2): 83–97. doi:10.1016/j.cardfail.2009.01.006. PMID 19254666.