What can be obtained from DNA testing

DNA testing or genetic testing is a procedure used to find out someone's genetic information. With DNA testing, a person can find out the lineage and also the risk of certain diseases. DNA stands for deoxyribonucleic acid or deoxyribonucleic acid. DNA forms the genetic material that is in each person's body, inherited from both parents.

Looking for Genetic Information

Everyone has 46 chromosomes in a cell. These chromosomes are made up of DNA, while short sections of DNA are known as genes. Genes contain information needed to form various proteins that make up body tissues and help various processes in the body. Sometimes genes can change and cause you to get a disease or you are at risk of developing abnormalities, including certain rare diseases. Therefore, if you want to find out genetic information in your body, then you can do a DNA test. At the very least, DNA testing can predict the risk of cancer or certain diseases, both yourself and your child later, and can reduce the risk of getting cancer or the disease. The following is an explanation of some DNA tests:

• Pre-implantation Test.

It aims to detect changes in the embryo formed by certain techniques, such as in vitro fertilization (FIV). To do this test, a small part of the fertilized egg outside the uterus will be removed. Then examined for certain genetic abnormalities. Only healthy embryos will be inserted into the uterus as a pregnancy attempt.

• Pre-natal Test.

This test is recommended for those whose babies are more likely to experience certain genetic conditions. However, this test cannot detect all diseases. Examples of prenatal DNA testing are through amniocentesis or chorionic villus sampling.

• Monitor newborn babies.

Early detection is done immediately after the baby has just been born to find out the possibility of genetic disorders that can be overcome from the beginning. For example disorders of metabolism, such as phenylketonuria.

• Diagnosis of genetic disorders.

Used to diagnose or rule out genetic disorders in people with certain symptoms that lead to genetic disorders, such as Down syndrome.

• Carrier testing.

To find out if someone has a gene for certain conditions that might be passed on to their children. Information like this can be useful in helping couples determine their decision to plan a pregnancy.

• Prediction Test.

It is used to detect genetic mutations related to diseases that can appear years after birth. Testing like this can help prepare for early treatment in patients with genetic disorders who have not experienced symptoms. This prediction test can show gene mutations that increase a person's risk of developing a disease due to genetic disorders. This information is useful, especially if you have parents or close relatives who have a hereditary disease. Prediction tests are used for prevention or planning the treatment process.

• Forensic test.

Forensic testing uses a series of DNA to identify someone for legal purposes. In contrast to other tests, forensic testing is not used to check for disease-related gene mutations. This test can be used to determine the parent's identity of a child. Also to identify body parts of disaster victims, such as fire or tsunami.

Detectable Genetic Diseases

There are various types of genetic diseases that can be detected through DNA testing. Here are a few examples, including:

• Alpha 1-antitrypsin (A1AT) deficiency.

A1AT is a protein produced by the liver and is useful for protecting the lungs. In this disease, sufferers experience A1AT deficiency so that damage slowly occurs in the lungs and also the liver.

• Thalassemia.

Blood disorders that are inherited or inherited in families, where the body produces hemoglobin abnormally. Hemoglobin functions to carry oxygen in red blood cells. As a result, people with thalassemia are prone to anemia.

• Crohn's disease

In Crohn's disease inflammation in the digestive tract causes stomach pain, diarrhea, and weight loss. Other complications that can occur are anemia and arthritis.

• Cystic fibrosis

This disorder causes abnormally thicker mucus in the organs of the body such as the lungs, digestive system, reproductive organs and kidneys. As a result, people with cystic fibrosis experience respiratory problems, digestion, malnutrition, and infertility.

• Breast, ovarian and prostate cancer

A person's risk for experiencing these three types of cancer can be known through DNA testing. For example, women with the BRCA1 gene have a 55-65% risk of developing breast cancer, while women without the gene generally have a risk of 12%.

• Lactose intolerance

Conditions when the digestive system is unable to digest lactose, resulting in diarrhea, abdominal pain and flatulence.

• Sickle cell anemia

The condition when red blood cells are not normal but sickle-like. Under normal circumstances, red blood cells function to carry oxygen with the help of hemoglobin. Whereas in patients with sickle cell anemia, red blood cells are unable to carry enough oxygen throughout the body.

• Down syndrome

Down's syndrome is also known as trisomy 21. This is a genetic condition that causes learning disabilities at some level and distinctive physical characteristics.

Sampling

DNA testing as a genetic examination is generally done through blood or tissue sampling. Most of the samples use blood from blood vessels, but some are using saliva samples or by wiping the inside of the mouth. For fetuses in the womb, DNA testing is done by taking amniotic fluid or amniotic water through an amniocentesis procedure, or by chorionic villus sampling that takes placental tissue samples. To note, both types of tests on the fetus have the risk of making the mother miscarry. Discuss further with your doctor about these risks if you are asked to do this procedure. After the sample is obtained, it will then be sent to a laboratory for examination. It may take several weeks to get the results. The cost of DNA testing varies, depending on the type and level of difficulty of the test itself. If you are advised or intend to do a DNA test, do not forget to consult with your doctor or genetic specialist, to discuss the benefits, risks and what the test means for you and your family.