A man was diagnosed with late-onset Pompe disease (LOPD) after prenatal genetic counseling, even though he exhibited no symptoms. “This example stresses the importance of pretest consultation and the relevance of clinical and ethical implications during prenatal genetic testing for the whole family group,” scientists wrote. His condition was…
If you are a carrier of Pompe disease, you may be wondering about the risks of passing the disease to your children. A carrier has one copy of a disease-causing mutation but does not have the disease themselves. If your partner is not a carrier of a…
Genetic testing looks for changes in genes and chromosomes that might indicate you have a genetic disease such as Pompe disease. Genetics of Pompe disease Pompe disease is caused by mutations in the GAA gene. These mutations lead to your cells not being able to properly make…
If you, your partner, or anyone else in the family has Pompe disease, you may wonder whether the disorder also will affect your future children. Genetic counseling can help you calculate the risk and help you with genetic testing and family planning. What do genetic counselors do? Genetic…
Axovant Gene Therapies is collaborating with Invitae to offer free genetic testing in the United States and Canada to children suspected of having a lysosomal storage disease. The Axovant sponsorship is meant to help bring down barriers to genetic diagnoses and counseling for lysosomal storage diseases…
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