The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

Dominique Paul GermainSergey MoiseevFernando Suárez-ObandoFaisal Al IsmailiHuda Al KhawajaGheona AltarescuFellype C BarretoFarid HaddoumFatemeh HadipourIrina MaksimovaMirelle KramisSheela NampoothiriKhanh Ngoc NguyenDau-Ming NiuJuan PoliteiLong-Sun RoDung Vu ChiNan ChenSergey Kutsev

Published in: Molecular genetics & genomic medicine (2021)

In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.

Keyphrases

end stage renal disease
newly diagnosed
replacement therapy
ejection fraction
genome wide
chronic kidney disease
peritoneal dialysis
hypertrophic cardiomyopathy
prognostic factors
copy number
heart failure
dna methylation
left ventricular
patient reported
atrial fibrillation