What is genetic testing?
Genetic testing is a type of laboratory test that looks for changes in a person’s genetic material (DNA, genes or chromosomes) or in the products that the genes make. Most times genetic testing is done by taking a blood sample, but sometimes other body samples (like cheek cells or skin) are needed. There are many genetic conditions for which there is no testing available. So, not everybody who comes to CPGH for genetic counseling will be able to have a genetic test. The physician and genetic counselor that you speak with during your appointment will explain if genetic testing is available or advised. For example, they will tell you how and where it is performed, who in the family is the best person to be tested first, and how long it will take to see the results. As a general rule, ALL genetic testing results are given in person during a follow-up genetic counseling session. Finally, because many genetic tests are expensive and not always covered by insurance, we recommend that each pe
Genetic testing is a type of laboratory test that looks for changes in a person’s genetic material (DNA, genes or chromosomes) or in the proteins that the genes make. Generally, genetic testing is done by taking a blood sample, but sometimes other body samples (like cheek cells or skin) are needed. Not everyone who comes for genetic consultation will have a genetic test. This is because there are many genetic conditions for which no test is available. The medical geneticist and genetic counselor will explain if genetic testing is available. They also will tell you how and where the test will be done, who in the family is the best person to be tested first, and how long it will take to receive results. Genetic testing continues to advance rapidly. If your family has already had genetic testing and you still have concerns, you may want to explore the availability of new tests or improvements in the accuracy of testing. A medical geneticist or genetic counselor can help you with informati
The expanding field of genetics and growing research linking mutations in specific genes to increased risk of cancer (cancer susceptibility genes) have led to an interest in predictive genetic testing. This testing may help identify people who are at an increased risk for developing certain types of cancer. While predictive genetic testing may provide information and benefits for some people, it also carries many limitations and risks. People considering undergoing genetic testing need to fully understand the process and its implications.
Genetic tests use a variety of laboratory techniques to determine if a person has a genetic condition or disease or is likely to get the disease. Individuals may wish to be tested if: • There is a family history of one specific disease. • They show symptoms of a genetic disorder, • They are concerned about passing on a genetic problem to their children. Genetic tests include techniques to examine genes or markers near the genes. Direct testing for diseases such as cystic fibrosis and sickle cell anemia come from an analysis of an individual’s specific genes. A technique called linkage analysis, or indirect testing, is used when the gene cannot be directly identified but can be located within a specific region of a chromosome. This testing requires additional DNA from an affected family member for comparison. Because each person’s DNA is unique (except for identical twins), genetic tests also can be used for individual identification (“DNA fingerprinting”). Genetic testing is a complex
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Most of the time, testing is used to find changes that are associated with inherited disorders. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. Several hundred genetic tests are currently in use, and more are being developed. Genetic testing is voluntary. Because testing has both benefits and limitations, the decision about whether to be tested is a personal and complex one. A genetic counselor can help by providing information about the pros and cons of the test and discussing the social and emotional aspects of testing.
