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Fabry Disease (FD)


Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A (a-Gal A) due to mutations GLA gene that causes a buildup of a type of fat called globotriaosylceramide (Gb3, or GL-3) in the body, with multysystemic affection, including neurological, ocular, skin, renal and cardiovascular. The prevalence of the disease at birth is estimated in 1:40,000, however some cases exhibit late presentation with less phenotype severity. More than 50% of all Fabry patients have a cardiac involvement (ie, Fabrycardiomyopathy), most frequently concentric left ventricular hypertrophy (LVH). Isolated cardiac manifestations have been reported. Near 0.4% of patients with hypertrophic cardioyopathy have FD.

Why to perform genetic testing in cases with suspected FD?

  • To confirm the diagnosis, genetic test is considered a gold standard in the diagnosis of FD
  • When diagnosis is clear, the administration of recombinant alpha-galactosidase before the establishment of irreversible organ damgae can improve significantlly organ dysfunction and symptoms
  • To detect family members at risk


Our Fabry Genetic Test


Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from this test: When the clinical diagnosis is clear, more than 95% of the cases will have mutations in this gene


Recommended Literature

  • Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis. Seo J, et al. Send to. J Hum Genet. 2016 Sep;61(9):775-80. doi: 10.1038/jhg.2016.52.
  • Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease. Nowak A, et al. Mol Genet Metab. 2018 Feb;123(2):148-153. doi: 10.1016/j.ymgme.2017.07.002.
  • The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease – A systematic literature review by a European panel of experts. Germain DP, 2018; Mol Genet Metab. 2018 Sep 27.

pii: S1096-7192(18)30192-6. doi: 10.1016/j.ymgme.2018.09.007.


Download here interesting open access manuscripts on genetics of FD: