With advances in modern medicine, genetic testing can be used in many applications for early disease detection, risk assessment and prevention. Providing in-depth information on genes and chromosomes, results from genetic testing allow the opportunity to discover a pre-disposition to disease, to pre-empt potential future problems and to combat early onset of symptoms. The types of genetic testing currently available from Enliven’s medical associates include:
Genetic testing is often used to confirm a given diagnosis, when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing either identifies or rules out a specific genetic or chromosomal condition, and the results can help influence choices on healthcare and managing the disorder. While not available for all genes or all genetic conditions, this test can be performed before birth or at any time in life.
Carrier testing is able to determine if an individual is a ‘carrier’ of specific diseases. This type of genetic testing is offered to those who have a family history of a genetic disorder and to people in certain ethnic groups with increased risk of specific genetic conditions. Most often provided to couples looking to have children, the carrier test identifies gene mutation that, when present in both parties, increases the incidence of a genetic disorder. In short, the couple’s risk of having a child with a genetic condition is assessed.
To detect genetic changes in embryos, created using assisted reproductive techniques, such as invitro fertilization, preimplantation testing is also known as preimplantation genetic diagnosis (PGD). A specialized technique, this type of testing may reduce the risk of having a child with a particular genetic or chromosomal disorder. A small number of cells are taken from the embryos, prior to implantation, in assisted reproduction, and tested for certain genetic changes. Only embryos without these changes are implanted in the uterus, to initiate pregnancy.