Description

Genetic Diagnosis Laboratory

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.

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.