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Genetic Disorders
Genetic Disorders - Diagnosis
Diagnosis of Genetic Disorders
An early diagnosis of genetic disorders is crucial for the timely treatment of the disorder. Usually doctors perform genetic testing in case of a suspected genetic disease. Some of the main tests for genetic disorders include:
- Diagnostic Testing: This is done in cases where an individual experiences certain symptoms of a particular condition caused by gene mutations. Disorders like Charcot-Marie-Tooth disease, hemochromatosis, and polycystic kidney disease may be diagnosed through such tests.
- Presymptomatic Testing: This is done in cases where a person has a ancestral history of a specific genetic disorder.
- Carrier Testing: Doctors recommend this test if the person tested has a family history of disorders like sickle cell anemia or cystic fibrosis, before you decide to have children. The test helps determine if either one of you is a carrier of a mutated gene.
- Prenatal Testing: All pregnant women undergo this test to detect the chances of their baby developing disorders like Down syndrome and Spina bifida.
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