DNA Test [Genetic Testing] What, How & Benefits

In this article, we will discuss DNA test in a simple and easy way and try to understand many important aspects related to it.

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| What is DNA?

Our body is made up of trillions of cells and each cell has a nucleus, and DNA is found in that nucleus.

Actually DNA i.e. Deoxyribonucleic Acid is actually a molecule, which is like a bent long ladder or double helix. The poles of this ladder are made up of four different types of small molecules, which are called nucleotides .

These four nucleotides are called adenine, guanine, thymine and cytosine and are the letters of our genetic alphabet.

The special arrangement or organization of this letter gives instructions to all living things. Such as – how to grow, how to walk, how to eat, how to digest, and how to reproduce etc.

Read from here –What exactly is DNA and how does it work?

| What is a DNA test?

DNA test is also called genetic testing. It is a type of medical test that identifies changes in genes, chromosomes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s likelihood of developing or passing on a genetic disorder.

The following changes are discovered in a genetic test or a DNA test:

Gene – Under gene testing, DNA sequences are studied to identify variations (mutations) in genes. Gene testing can be narrow or broad in scope, such as the study of an individual DNA building block (nucleotide), the study of one or more genes, or all of a person’s DNA (known as their genome). ) analysis of.

Chromosomes – Under chromosomal genetic testing, entire chromosomes, or long lengths of DNA, are analyzed to see if there have been major genetic changes, such as an extra copy of a chromosome, which can cause genetic conditions.

Protein – Under biochemical genetic testing, the amount or activity level of a protein or enzyme is studied; Abnormalities may indicate changes in DNA that result in a genetic disorder.

Genealogy DNA Testing – This DNA-based test used in genetic genealogy to estimate an individual’s ethnic admixture, to find or verify ancestral lineage relationships, or to look at specific locations in an individual’s genome, etc.

| Usefulness of DNA test or genetic test

A DNA test or genetic test can provide information about a person’s genetic background. Uses of genetic testing include the following:

Newborn screening – Newborn screening soon after birth is used to identify genetic disorders so that they can be treated early in life.

Clinical test – It is used to identify or rule out a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm the diagnosis when a particular condition is suspected based on physical signs and symptoms. Clinical testing can be done before birth or at any time during a person’s life.

Carrier testing – This type of test is done for individuals who have a family history of a genetic disorder. Both parents are tested, and the test can provide information about a couple’s risk of having a child with the genetic condition.

Prenatal test – Prenatal testing is used to detect changes in the genes or chromosomes of the embryo before birth. This type of test is done during pregnancy if there is an increased risk that the baby will have a genetic or chromosomal disorder. In some cases, prenatal testing can reduce a couple’s uncertainty or help them make a decision about pregnancy. However, it cannot identify all possible hereditary disorders and birth defects.

Preimplantation test – It is also called preimplantation genetic diagnosis. This is a special technique, which can reduce the risk of having a child with a particular genetic or chromosomal disorder.

It is used to detect genetic changes in embryos that are created using Assisted Reproductive Technologies such as in-vitro fertilization (IVF).

Actually, in-vitro fertilization is the removal of egg cells from a woman’s ovary and they are fertilized with sperm cells outside the body.

To perform preimplantation testing, a small number of cells are taken from these embryos, and some are tested for genetic changes. The embryo is then later implanted in the uterus to start the pregnancy.

Pre-symptom test – Pre-symptom type testing is used to detect gene mutations associated with disorders that appear after birth.

These tests can be helpful for people who have a family member with a genetic disorder, but the disorder itself does not have any features at the time of testing. As such, this test can identify mutations that increase a person’s risk of developing disorders with a genetic basis, such as certain types of cancer.

Pre-symptom test results can provide information about a person’s risk of developing a specific disorder and help make decisions about medical care.

Forensic examination – Forensic testing uses DNA sequences* to identify a person for legal purposes. Unlike the tests described above, forensic testing is not used to detect gene mutations associated with the disease. This type of test can identify victims of crime or disaster.

Such a test can rule out or implicate a suspect, or establish a biological relationship between people.

| How is genetic testing done?

Genetic testing is done on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds the fetus during pregnancy), or other tissue. For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inner surface of the cheek.

The sample is sent to a laboratory, where technicians look for specific changes in chromosomes , DNA , or proteins depending on the suspected disorder. The laboratory reports the test results in writing to a person’s doctor or genetic counselor, or directly to the patient if requested.

What do the results of genetic tests mean?

The results of genetic tests are not always straightforward, which often makes them challenging to interpret. Therefore, it is important for patients and their families to ask questions about the possible meaning of genetic test results before and after testing.

A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein. Depending on the purpose of the test, this result can confirm the diagnosis, just as it can indicate that a person is a carrier of a particular genetic variant.

A negative test result means that the laboratory did not find a change in a gene, chromosome, or protein that is known to affect health or development. This result may indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic variant, or is not at risk of developing a certain disease.

However, it is possible that testing may have missed disease-causing genetic changes because many tests may not detect all of the genetic changes that can cause a particular disorder. Further testing, or re-testing at a later date, may be needed to confirm a negative result.

In some cases, a test result may not provide any useful information. This type of result is called non-informational, or inconclusive.

Non-informative test results sometimes occur because everyone has normal, natural variations in their DNA, called polymorphisms , that do not affect health.

A non-informative result cannot confirm or deny a specific diagnosis, and cannot indicate whether a person is at increased risk of developing the disorder. In some cases, testing of other affected and unaffected family members can help clarify this type of result.

What is the cost of genetic testing, and how long does it take to get results?

The cost of genetic testing varies depending on the nature and complexity of the test, as well as the cost may vary depending on the clinic. That is why it can range from a few thousands to millions. The cost increases if more than one test is necessary or if multiple family members must be tested to obtain a meaningful result.

And in terms of time, from the date of sampling, it may take a few days to weeks to get the test results. There are thousands of types of DNA tests available today.

What are the benefits of a genetic test or a DNA test?

Genetic testing can be important in determining whether the results are positive or negative for a gene mutation. Test results can provide a sense of relief from uncertainty and help people make informed decisions about managing their health care.

Some test results can also help people make decisions about whether to have children. And newborn screening can identify genetic disorders early in life, so that treatment can be started at the earliest. In some cases the real parent, spouse or guardian may be identified. And it can be used to identify human or ethnic race.

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DNA FAQ

Q. What does DNA do?

DNA is the custodian of genetic information and the carrier of genetic instructions. These messages are copied very securely and passed from one cell to another and from one generation to another.

Q. How is DNA made?

A new DNA molecule is formed when a protein that is released breaks the strands of the coil. Due to which the ladder poles are also separated. Every thread in the strand is a copy of its previous partner. In this way two identical DNA molecules are formed. Reproduction of genes takes place in this way and they pass from one generation to the next.

Q. How does DNA change?

When living cells divide, both parts receive a copy of the DNA. A special type of protein does Proof Reading so that the right letters are selected. So that there is no mistake in the copy of DNA, but no one is perfect. Sometimes there is a mistake in proof reading and there is a change in the genetic instruction.
The consequences of this small incident come to the fore in a big way. Such as – variation in skin color, variation in physical appearance, etc.

Q. What is done in a DNA test?

Generally, in the DNA test, the parents, family, family, lineage or ethnic group are traced. In other words, the meaning of DNA test is to find out the genetic relationship.
For DNA testing, samples of the person’s blood, hair, skin and amniotic fluid etc. are taken. (The fluid that surrounds the fetus in pregnancy is called amniotic fluid.)
DNA tests are mostly done for the purpose of collecting specific information in medical and criminal cases. Apart from this, it is also done to settle inheritance and property disputes or other types of emotional issues.

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