Yeditepe University Hospital Genetic Diagnosis Laboratory carries out several types of genetic testing for various different reasons:
If you have symptoms of a disease that may be caused by genetic alterations, genetic testing can reveal if you have the suspected disorder. Examples of disorders for which genetic testing may be used to confirm a diagnosis include adult polycystic kidney disease, iron overload (hemochromatosis) and Charcot-Marie-Tooth disease.
If you have a family history of a genetic condition, undergoing genetic testing before you have symptoms may show if you’re at risk of developing that condition.
If you have a family history of a genetic disorder — such as sickle cell anemia or cystic fibrosis — or you are in an ethnic group that has a high risk of a particular genetic disorder, you may choose to have genetic testing before you have children. An expanded carrier screening test can detect genes associated with a wide variety of genetic diseases and mutations.
If you have a particular health condition or disease, this type of genetic testing may help determine what medication and dosage will be most effective and beneficial for you.
If you are pregnant, tests are available that can detect some types of abnormalities in your baby’s genes. Down syndrome and trisomy 18 are two genetic disorders that are often screened for as part of prenatal genetic testing.
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This is the most common type of genetic testing. Some countries require that newborns be tested for certain gene abnormalities that cause specific conditions. This type of genetic testing is important because if results show there’s a disorder such as congenital hypothyroidism or phenylketonuria (PKU), care and treatment can begin right away.
Also called preimplantation genetic diagnosis, this test may be used when you attempt to conceive a child through in vitro fertilization. With in-vitro fertilization, eggs are removed from a woman and sperm are collected from a man. The eggs are then fertilized with the sperm outside the body to create embryos. The embryos are then screened for genetic abnormalities. Embryos without abnormalities are implanted in the uterus in hopes of achieving pregnancy.
Before you undergo genetic testing, gather as much information as you can about your family’s medical history. Then, talk with our experts at Yeditepe University Hospital about your personal and family medical history. This can help you better understand your risk. Discuss questions or concerns you have about genetic testing. Also, talk about your options, depending on the results of the test.
If you are being tested for a genetic disorder that runs in families, you may want to consider discussing your decision to undergo genetic testing with your family. Having these conversations before testing can give you a sense of how your family might respond to your test results and how it will affect them.
Depending on the type of test, a sample of your blood, skin, amniotic fluid or other tissue will be collected.
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