scholarly journals Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing

2011 ◽  
pp. 1-4 ◽  
Author(s):  
Lindsay S. Paull ◽  
Michael J. Lipinski ◽  
William G. Wilson ◽  
Shawn E. Lipinski
Keyword(s):  
Genetic Testing ◽  
Fabry Disease

scholarly journals The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

2021 ◽  
Author(s):  
Dominique P. Germain ◽  
Sergey Moiseev ◽  
Fernando Suárez‐Obando ◽  
Faisal Al Ismaili ◽  
Huda Al Khawaja ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Fabry Disease ◽  
Genetic Diseases ◽  
Rare Genetic Diseases

scholarly journals Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy

2020 ◽  
Vol 11 (1) ◽  
pp. 1-9
Author(s):  
Maria Xu ◽  
Christopher Orsborne ◽  
James Eden ◽  
Andrew Wallace ◽  
Heather J. Church ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Fabry Disease ◽  
Enzyme Assay ◽  
Somatic Mosaicism ◽  
Loss Of Function ◽  
Low Levels ◽  
Alpha Galactosidase ◽  
Biochemical Testing ◽  
Blood Spot

We describe a 55 year old male diagnosed with cardiomyopathy due to Fabry disease. Biochemical testing of blood spot and plasma showed low-normal alpha-galactosidase A (α-Gal A) levels. Genetic testing revealed somatic mosaicism for GLA c.901C>T, p.(Arg301Ter). Usually, males with Fabry disease due to loss of function variants in GLA show symptoms of the multisystemic features of the condition early in life, and have very low levels of the α-Gal A enzyme. This demonstrates that the diagnosis of Fabry disease in males with cardiomyopathy should still be considered even in the context of a normal plasma enzyme assay.

Screening for Fabry disease using genetic testing

2010 ◽  
Vol 12 (6) ◽  
pp. 530-531 ◽  
Author(s):  
Frank Weidemann ◽  
Markus Niemann
Keyword(s):  
Genetic Testing ◽  
Fabry Disease

Genetic Testing Goes Commercial

2009 ◽  
Vol 40 (12) ◽  
pp. 12 ◽  
Author(s):  
HOWARD P. LEVY
Keyword(s):  
Genetic Testing

p16 Genetic Testing Has Limited Impact

2007 ◽  
Vol 38 (11) ◽  
pp. 1-23
Author(s):  
BETSY BATES
Keyword(s):  
Genetic Testing ◽  
Limited Impact
Sign in / Sign up

Export Citation Format

Share Document