Many genetic diseases are caused by gene changes in every cell in the body. These disorders often affect many body systems and most are incurable.
However, approaches may exist to treat or manage some associated signs and symptoms. With our genetic diseases diagnosis and treatment center in our hospital, we ensure that genetic diseases are not left undiagnosed and that an appropriate treatment program is created.

Diagnosis of genetic diseases
Genetic testing involves examining your DNA which is the chemical database that carries instructions for your body’s functions. Genetic testing aims to find changes (mutations) in your genes that can cause diseases.
Genetic tests provide important information for the diagnosis, treatment, and prevention of diseases. With the interpretation of your results by your doctor, a multidisciplinary program can be determined to combat genetic diseases.

Why are genetic tests done?
Genetic testing plays a vital role in determining the risk of developing certain diseases, as well as screening and sometimes medical treatment. Different types of genetic tests are performed for different reasons.
Diagnostic test
If you have symptoms of a disease that can be caused by genetic mutations, genetic testing can diagnose the disease. For example, genetic testing can be used to confirm a diagnosis of cystic fibrosis or Huntington’s disease.
Presymptomatic and preventive testing
If you have a family history of a genetic disease, having a genetic test before you have symptoms can show whether you are at risk of developing the condition. For example, this type of test can be useful for determining your risk of developing certain types of colorectal cancer.
Carrier testing
If you have a family history of a genetic disorder, such as sickle cell anemia or cystic fibrosis, or if you are in an ethnic group at high risk for a particular genetic disorder, you may want to consider genetic testing before conceiving. So you can find out if you are a carrier or not.
Pharmacogenetics
If you have a specific health condition or illness, this type of genetic testing can help determine which drug and dosage will be most effective and beneficial for you.
Prenatal tests
If you are pregnant, tests can detect some abnormalities in your baby’s genes. Down syndrome and trisomy 18 syndrome are two genetic disorders that are usually screened as part of prenatal genetic testing.
Newborn screening
This is the most common type of genetic testing. This type of genetic testing is important because if results show a disorder such as congenital hypothyroidism, sickle cell disease, or phenylketonuria (PKU), care and treatment can be started immediately.
Preimplantation test
During IVF (In vitro fertilization) treatment, embryos can be tested before they are implanted in the mother’s uterus. Embryos are screened for genetic abnormalities. Embryos without abnormalities are implanted in the uterus for increasing the possibility of pregnancy.

How is genetic testing done?
Before you have a genetic test, you should find as much information as possible about your family’s medical history. If you are being tested for a genetic disorder in your family, you may want to consider having a genetic test with your family.
Depending on the type of test and the result to be investigated, a sample of your blood, skin, amniotic fluid, or other tissue will be taken and sent to a laboratory for analysis.
Blood sample
While blood samples are taken from the arm in children and adults, babies are taken from the heel.
Cheek swab
A genetic test sample can be taken from inside your cheek.
Amniocentesis
In this prenatal genetic test, your doctor collects a small amount of amniotic fluid with a needle from your uterus.
Chorionic villus sampling
For this prenatal genetic test, your doctor takes a sample of tissue from the placenta. Depending on your situation, the sample can be taken through a tube (catheter) from your cervix or abdominal wall and uterus using a thin needle.