Types of genetic tests
Carrier testing for recessive conditions is used to identify people who carry one copy of a gene change that, when present in both copies of the gene, causes a genetic disorder. This type of testing is offered to individuals who may have a family history of a recessive genetic disorder. It is also available to people in certain ethnic groups known to have an increased risk of specific genetic conditions. f both parents are tested, the test can provide important information about a couple's risk of having a child with a genetic condition.
Karyoptye analysis is the study of chromosomes, the tiny structures found in each cell on which the genes are located. A karyotype examines the chromosomes to check if there are any changes in total numbers or structure. Karyotype testing for both partners having difficulty conceiving can provide useful information in determining the cause of infertility, and help towards appropriate treatment planning to increase your chance of having a healthy baby.
Preimplantation Genetic Testing
Preimplantation genetic testing, known as PGT is a specialised technique that can reduce the risk of having a child with a known genetic condition or chromosomal disorder. PGT is used to detect genetic changes in embryos created using IVF. To perform PGT a small number of cells are taken from IVF embryos and tested for the specific genetic changes. Embryos without the genetic change(s) are implanted in the womb to initiate a pregnancy.
Predictive and presymptomatic testing
These tests are used to detect gene mutations associated with genetic conditions appearing after birth, during childhood, in adolescence or often later in life. The tests can be helpful to people at risk of inheriting a familial genetic mutation but have no features of the condition at the time of testing. Predictive testing can identify mutations that increases a person's risk of developing disorders with a genetic basis, such as certain types of cancer. Presymptomatic testing can determine if an individual will develop a disorder before symptoms appear. The results of predictive and presymptomatic testing can provide important information regarding risks of developing conditions and help with making decisions about future medical care and with planning a family.
Prenatal testing is used to detect changes in a fetus's genes or chromosomes before birth. This type of testing is offered during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a couple's uncertainty or help them make decisions about a pregnancy. However, It cannot identify all possible inherited disorders and birth defects.
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