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...
Some couples find out that they are carriers of a single gene recessive disorder only after their first pregnancy. Such was the case for Emily and Adam Griffin, who then decided to pursue PGT-M (preimplantation genetic testing for monogenic/single gene disorders) for...
Decades ago, parents-to-be with a family history of genetic illness or hereditary cancer were often faced with the difficult decision of either never having children or potentially passing along the disease. Today, there are many types of genetic tests, including...