Carriers of this disease carry one copy of the mutation. We inherit one copy of a gene each from our parents, leading to two copies of the gene in each person. This means that where a normal person has two copies of the gene, in a carrier they have one healthy copy and one mutated copy.
For diseases which are recessive, the carrier will not exhibit any signs and even live normal lives. However, there poses a problem when a carrier wants to have children. If two carriers have a child, there is a chance (25% in Mendellian Genetics) that the child will inherit both mutant copies and develop the disease.
In a small percentages of births, there are children born from one normal parent and one carrier who exhibit the disease. This can occur due to a spontaneous mutation in the normal gene, turning it into a mutant.
Carrier screening for “parent-to-be”
Many states and country has programs where newborns are screened for these disease and/or conditions. By screening parent to be some vital information can be revealed.
Our screening panel includes clinically useful DNA mutations for diseases or conditions. Many of the disease include vital function. May help prevent or predict disease or condition.
1. Early intervention
2. Intellectual disability
3. Shortened life expectancy
4. Limited or no treatment