Genetic diseases that run in families usually follow certain inheritance patterns. X-linked (sometimes called “sex-linked”) is one pattern of inheritance. It is called “X-linked” because the genes related to these types of diseases are found on the X chromosome, one...
You have a genetic condition, or you are at-risk for developing one. Or maybe you and your partner found out you both carry a mutation for the same genetic condition. You’ve had confirmatory testing. Basically, you know you are a candidate. And now you may be...
With the growing awareness of the importance of family history information as well as increasing access to genetic testing, more people are finding out that they may be at risk for a genetic disease. Sometimes, this knowledge comes before that individual is ready to...
What is Smith-Lemli-Opitz syndrome? Smith-Lemli-Optiz syndrome (SLO) is an inborn error of cholesterol metabolism that results from the reduced activity or absence of the enzyme 7-dehydrocholesterol reductase. This enzyme controls the last step in the formation of...
Autosomal recessive is a pattern of inheritance. Genetic diseases are caused by changes, also called mutations or pathogenic variants in genes that cause the gene not to work properly. We inherit two copies of each gene from our parents; one from our mothers and the...
Deciding to undergo predictive genetic testing for an adult-onset, incurable condition such as Huntington’s disease (HD), frontotemporal dementia or familial amyotrophic lateral sclerosis (FALS) can be difficult for at-risk individuals. When an individual has a...
