Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique. Genetic disorders can be:
Other Syndromes and Monogenic Diseases
- Chromosomal: A This type affects the structures that hold your genes/DNA within each cell (chromosomes). With these conditions, people are missing or have duplicated chromosome material.
- Complex (multifactorial): These disorders stem from a combination of gene mutations and other factors. They include chemical exposure, diet, certain medications and tobacco or alcohol use.
- Single-gene (monogenic): This group of conditions occurs from a single gene mutation.
DNA testing for genetic disorders can be an important part of starting a family. Options include:
- Carrier testing:This blood test shows whether you or your partner carry a mutation linked to genetic disorders. This is recommended for everyone considering pregnancy, even if there is no family history.
- Prenatal screening:This testing usually involves blood testing from a pregnant person that tells them how likely it is that a fetus could have a common chromosome condition.
- Prenatal diagnostic testing:You can find out whether the developing fetus faces a higher risk for certain genetic disorders. Prenatal testing uses a sample of fluid from your uterus (amniocentesis).
- Newborn screening: Detecting genetic disorders early in life can help your child receive timely care if needed.
