PGT for Smith-Lemli-Opitz syndrome
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...
An Introduction to Genetic Inheritance
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...
What is Autosomal Recessive Inheritance?
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...
Exclusion Testing with PGT for Adult-Onset Conditions
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 parent...
Genome Editing vs PGT – Differences, Cautions, and Considerations for the Future
One of the most recent developments in the field of genetics is called genome editing. This group of scientific techniques allows for the addition, removal, or modification of DNA. CRISPR is a method for genome editing that has gained popularity as it is considered to...
PGT for Fabry Disease
Metabolism is the series of chemical reactions that break down food into energy in the body. Inborn errors of metabolism are rare genetic conditions that result in blockages in that pathway, typically due to the lack of or ineffective function of certain enzymes. A...
Direct-to-Consumer Genetic Tests Carry Genetic Privacy Risks
Do direct-to-consumer genetic testing companies take appropriate measures to secure the genetic privacy of consumers?
PGT for Familial Adenomatous Polyposis (FAP)
Preimplantation genetic testing (PGT) for hereditary colorectal cancer sub-type familial adenomatous polyposis (FAP); Preimplantation genetic diagnosis (PGD) for hereditary colorectal cancer sub-type familial adenomatous polyposis (FAP)
Can you do PGT for two genetic diseases?
Preimplantation genetic diagnosis (PGD) for two different genetic diseases; preimplantation genetic testing (PGT) for two different genetic diseases.