Fabry's disease screening: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Fabry's disease}} | {{Fabry's disease}} | ||
{{CMG}} {{AE}} | |||
== Overview == | == Overview == | ||
According to National society of Genetic Counselors, screening for Fabry's disease in patient | According to National society of Genetic Counselors, screening for Fabry's disease in patient family member is recommended. | ||
== Screening == | == Screening == | ||
*There is insufficient evidence to recommend routine newborn screening for [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] in general papulation. | *There is insufficient evidence to recommend routine newborn screening for [https://www.wikidoc.org/index.php/Fabry's%20disease Fabry's disease] in general papulation. | ||
Revision as of 19:55, 25 April 2022
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Fabry's disease Microchapters |
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Fabry's disease screening On the Web |
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Risk calculators and risk factors for Fabry's disease screening |
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.