Fabry's disease screening: Difference between revisions
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{{Fabry's disease}} | {{Fabry's disease}} | ||
== Overview == | |||
According to National society of Genetic Counselors, screening for Fabry's disease in patient foamily member is recommended. | |||
== 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. | ||
*According to National society of Genetic Counselors, screening for Fabry's disease for family members of individual affected is recommended by : | *According to National society of Genetic Counselors, screening for Fabry's disease for family members of individual affected is recommended by<span> </span>: | ||
**Measuring [https://www.wikidoc.org/index.php/Alpha-galactosidase alpha-galactosidase] activity in men | **Measuring [https://www.wikidoc.org/index.php/Alpha-galactosidase alpha-galactosidase] activity in men | ||
**Sequencing the GLA [https://www.wikidoc.org/index.php/Gene gene] in females | **Sequencing the GLA [https://www.wikidoc.org/index.php/Gene gene] in females | ||
Revision as of 19:05, 15 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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American Roentgen Ray Society Images of Fabry's disease screening |
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Risk calculators and risk factors for Fabry's disease screening |
Overview
According to National society of Genetic Counselors, screening for Fabry's disease in patient foamily 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.