Genetic disorders are health conditions caused by changes, or variants, in genes or chromosomes within DNA. These changes may be inherited from one or both parents or, more rarely, arise spontaneously during a person's lifetime.
The human body contains thousands of genes that help determine how cells function. A disease may develop when a change in a gene disrupts normal biological function.
Genetic disorders are generally grouped into three categories:
1️⃣ Single-gene disorders:
Caused by a change in one gene.
Examples include cystic fibrosis and phenylketonuria.
2️⃣ Chromosomal disorders:
Caused by a change in chromosome number or structure.
A well-known example is Down syndrome.
3️⃣ Multifactorial disorders:
Develop through the combined effects of genetic susceptibility and environmental factors.
When Should You Seek Genetic Counseling?
- If there is a family history of a genetic disorder
- If a consanguineous marriage is being considered
- If there have been recurrent miscarriages
- When planning a pregnancy
Specialist assessment is important for evaluating genetic risks accurately and selecting appropriate tests.
