Targeted Variant Testing

Targeted genetic testing for known variants focuses specifically on identifying the presence of a previously identified and well-characterized genetic variant in a patient’s DNA. This test is used when a specific genetic mutation is suspected to be responsible for a particular medical condition. The test is designed to look for a specific genetic variation in a specific gene or a set of genes, and it is often used when the genetic cause of a disease has already been identified in other family members or in previous research studies. This type of testing can be faster and less expensive than full genome sequencing, and it can provide a more focused and specific answer regarding the presence or absence of a particular genetic variant. Examples of conditions that can benefit from genetic testing. 1. Diagnosis of inherited genetic disorders: Targeted genetic analysis can help diagnose a specific genetic disorder by testing for a known variant that is associated with the disease. 2. Carrier testing: Targeted genetic analysis can be used to determine if an individual is a carrier of a genetic disorder, which can have implications for family planning. 3. Prenatal testing: Targeted genetic analysis can be used for prenatal testing to assess the risk of a specific genetic disorder in a developing fetus. 4. Cancer diagnosis: Targeted genetic analysis can be useful in the diagnosis of certain types of cancer by testing for specific genetic mutations associated with the disease