Description

Genetic Diseases Diagnosis and Treatment Center

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.

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.

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.