What is fragile X syndrome? Fragile X syndrome is the most common inherited cause of intellectual disability and autism. The gene that causes fragile X syndrome helps in the development of neuronal synapses. Therefore, mutations in this gene lead to delayed...
You’ve determined you’re a candidate for preimplantation genetic testing (PGT). And you have done some background work to prepare yourself for what the process entails. Even if you are months or years away from wishing to conceive a pregnancy, there are many practical...
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...