Yeditepe University Hospital Genetic Diagnosis Laboratory carries out several types of genetic testing for various different reasons:

Diagnostic testing: 

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.

Presymptomatic and predictive testing:

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.

Carrier testing:

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.

Pharmacogenetics:

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.

Prenatal testing:

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.

Newborn screening:

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.

Preimplantation testing:

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 testing:

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.

Tests available at Yeditepe University Hospital Genetics Diagnosis Laboratory:

Depending on the type of test, a sample of your blood, skin, amniotic fluid or other tissue will be collected.

  • Blood sample: A member of the Yeditepe University Hospital healthcare team obtains the sample by inserting a needle into a vein in your arm. For newborn screening tests, a blood sample is taken by pricking your baby's heel.
  • Cheek swab: In some situations, a swab sample from the inside of your cheek is collected for genetic testing.
  • This prenatal genetic test relies on a sample of the amniotic fluid. During amniocentesis, your doctor inserts a thin, hollow needle through your abdominal wall and into your uterus. A small amount of amniotic fluid is then withdrawn into a syringe, and the needle is removed.
  • Chorionic villus sampling: For this prenatal genetic test, our specialist doctor takes a tissue sample from the placenta. Depending on your situation, the sample may be taken with a tube (catheter) through your cervix or through your abdominal wall and uterus using a thin needle.

The amount of time it takes for you to receive your genetic testing results will depend on the type of test. Your doctor will discuss them with you, and share the results with the appropriate medical departments and specialists within Yeditepe University Hospital’s multidisciplinary approach to treatment, ensuring implementation of the most efficient and accurate Diagnosis and treatment procedures.

 

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