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The Importance of Genetic Testing

Genetic testing can inform Fabry disease diagnosis and management

Genotype alone does not determine disease progression in Fabry disease—the etiology is complex, and there is great variability in the manifestation and progression of disease.1,2 Even when disease presentation is asymptomatic or mild, the accumulation of disease substrates (including globotriaosylceramide [GL-3] and plasma globotriaosylsphingosine [lyso-Gb3]) can contribute to long-term damage of organs and tissues.3,4 If there is suspicion of Fabry disease, genetic testing is generally recommended.3,5

Genetic testing is the only valid tool to diagnose Fabry disease in heterozygous females because in these women, enzyme activity can appear normal.6

For families affected by Fabry disease, targeted mutational analysis can be used to diagnose at-risk individuals who may not yet exhibit the phenotypic characteristics of the disease.7

Identification of the genetic mutation specific to an individual with Fabry disease may also provide insight into the unique nature of his or her disease, which can lead to a more personalized approach to their disease management.8,9
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  1. Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8(9):539-548.
  2. Rozenfeld PA. Fabry disease: treatment and diagnosis. IUBMB Life. 2009;61(11):1043-1050.
  3. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
  4. Namdar M, Gebhard C, Studiger R, et al. Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease. PLoS One. 2012;7(4):e36373.
  5. Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013;22(5):555-564.
  6. Lukas J, Giese A-K, Markoff A, et al. Functional characterisation of alpha-galactosidase A mutations as a basis for a new classification system in Fabry disease. PLoS Genet. 2013;9(8):e1003632.
  7. Yousef Z, Elliott PM, Cecchi F, et al. Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis. Eur Heart J. 2013;34(11):802-808.
  8. Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore). 2002;81(2):122-138.
  9. Schaefer E, Mehta A, Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl. 2005;94(447):87-92; discussion 79.