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...
Individuals who have family members with certain medical conditions may benefit by seeing a genetic counselor to explore the risk to develop the condition themselves as well as pass it on to their children. One part of the consultation will usually be to record the...
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...
The availability of preimplantation genetic testing (PGT), previously known as preimplantation genetic diagnosis (PGD), for hereditary cancer syndromes like BRCA1 and BRCA2 or Lynch syndrome is fairly universal these days. Even five years ago, however, many healthcare...
This is a continuation of a Q&A with Lee Cooper, patient advocate with LQTS and a proud father. Because this is Part 2 of Lee’s story, you may want to go back to read Part 1 first. Leslie: You said that you thought it was difficult initially to get information...
As a genetic counselor, I have heard hundreds of patient stories. Now and again, there are some that create quite an impact; so much of an impact that it changes the way you provide information to other patients. Lee Cooper is that person who profoundly changed how I...
Couples who choose to undergo in vitro fertilization (IVF) with preimplantation genetic testing (PGT, also known as preimplantation genetic diagnosis or PGD) are motivated by the desire to prevent the transmission of a genetic disease to their pregnancy. For many of...
