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Definition: What is genomic testing?

Genomic testing, also known as genetic testing or DNA testing, is a medical test that analyzes an individual’s DNA to identify variations or changes in their genes, chromosomes, or proteins. It involves the examination of specific genes or regions of the genome to determine the presence of genetic mutations, predispositions to certain diseases, or other genetic characteristics.

Genomic testing can provide valuable information about an individual’s genetic makeup and can be used for various purposes, including:

• Diagnostic Testing: Genomic testing can help diagnose genetic disorders or diseases by identifying specific genetic mutations or abnormalities.
• Carrier Testing: This type of testing is used to determine if an individual carries a gene mutation that could be passed on to their children.
• Predictive Testing: Genomic testing can assess an individual’s risk of developing certain diseases or conditions later in life.
• Pharmacogenomic Testing: This type of testing analyzes an individual’s genetic variations to predict how they may respond to certain medications, helping to personalize treatment plans.
• Prenatal Testing: Genomic testing can be performed during pregnancy to detect genetic disorders or chromosomal abnormalities in the fetus.

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Genomic testing is typically conducted using a sample of blood, saliva, or tissue. The sample is then analyzed in a laboratory using various techniques, such as DNA sequencing or microarray analysis, to examine the genetic material and identify any variations or mutations.

It is important to note that genomic testing has both benefits and limitations. While it can provide valuable insights into an individual’s genetic predispositions and help guide medical decisions, it may not always provide definitive answers or predict the onset of diseases with absolute certainty. Genetic counseling is often recommended before and after genomic testing to help individuals understand the implications of the test results and make informed decisions about their health.

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