You should discuss the exact panel you will be screened for with your healthcare provider. The types of conditions included in carrier screening can be grouped broadly into four different categories:
Some conditions have standard, recommended treatment that is reasonably accessible to most affected individuals. An example of this type of condition is Wilson disease, a treatable condition in which the body retains too much copper. If not diagnosed and treated early, the condition causes organ failure and death. But with careful treatment and avoidance of copper prior to the first symptom’s appearance, most symptoms can be prevented.
An example of this type of condition is fragile X syndrome, which is the most common form of inherited intellectual disability. It causes a spectrum of developmental and behavioral problems, which tend to be more severe in males.
An example of this type of condition is cystic fibrosis (also known as CF), which is characterized by the production of abnormally thick, sticky mucus that clogs various organ systems in the body, particularly the lungs and digestive system. This results in a shortened life expectancy of ~40 years.
An example of this type of condition is Tay-Sachs disease, which causes brain and other nerve cells to die leading to severe neurological problems. Infantile Tay-Sachs disease, the most common form, usually causes death by the age of four.
