MEDICAL GENETIC/GENOMIC TESTING
What is genetic testing?
Genetic testing examines changes, also called mutations or variants, in your DNA (genome). Many of these changes in your DNA can be transmitted across generations and cause genetic disorders affecting your health. Therefore, genetic testing is important in many areas of healthcare and can optimize the medical care that you and your family members receive.
For instance, genetic testing can diagnose the presence of Li-Fraumeni syndrome, a genetic condition that increases the lifetime risk for cancer development up to 90%. This dangerous syndrome involves mutations in a major tumor suppressor gene named TP53 and/or a DNA-damage repair gene named CHEK2. Early detection of Li-Fraumeni allows your doctors to apply effective preventive measures to substantially lower the lifetime risk for cancer development.
In general, genetic tests can be done using a buccal, saliva, or blood sample. Results are often ready within a few weeks. As we share similar DNA sequences with our family members, if you are found to have a genetic change, your family members may also have the same change. Therefore, it is helpful to have genetic counseling prior to and after genetic testing may help ensure that you receive the appropriate genetic test and you understand the results coming from your genetic screening.
Major Reasons for Genetic Testing
To determine whether you have a genetic disorder that is inherited in your family even before you have clinical symptoms
To understand, optimize, and guide your cancer prevention or treatment plans to achieve optimal results
To know about the chance that a current or future pregnancy will carry a genetic disorder
To diagnose a genetic disorder if you or your child/children has symptoms
Types of Genetic Tests
Clinical or medical genetic tests are different from direct-to-consumer (DTC) genetic tests. Medical genetic tests are ordered by your physicians because of a specific medical reason. Medical genetic tests follow stringent medical laboratory standards and are performed by certified medical professionals to give your reliable and accurate results for medical decisions.
In contrast, DTC tests are most of the times purchased by healthy individuals who want to learn more about various traits such as ancestry, nutrition, or risk for having certain genetic conditions. However, DTC tests are usually not performed by medical professionals and cannot provide a medical diagnosis. In other words, DTC tests can not definitely determine whether or not you will get a disorder. Thus, DTC should not be used as the sole source of information for making decisions about your healthcare.
Elsee Medicine's Medical Genetics/Genomics Tests
At Elsee Medicine, we provide large-scale genetic tests that use advanced Next-Generation Sequencing technology in combination with gold-standard medical genetic testing methods (Sanger sequencing and Microarray). Our comprehensive tests can analyze 24,000 genes as well as all parts of your genomes with high precision. All of our tests are performed by CLIA-certified and CAP-certified medical labs in the US. Genetic test data are analyzed by US-certified medical geneticists along with professional counseling by US-certified genetic counselors.
Here is a list of our medical genetic/genomic tests: