A DNA test, often known as genetic testing, is a type of medical examination that can spot changes to the genes, chromosomes, or proteins. These mutations can reveal whether you have a genetic disorder or not. DNA testing can also determine your likelihood of contracting a certain disease or passing on a genetic problem.
The blood, skin, hair, tissue, or amniotic fluid may be used as samples for genetic testing. Your chances of passing on a genetic condition to your child can also be determined by this.
What are the uses of genetic testing?
A genetic test searches for alterations in the chromosomes, proteins, and genes. One can know in detail about the genes that make you up via DNA tests. They can determine if you have a certain disease or not. They can evaluate if you are more likely to acquire specific conditions. They can also determine whether you have a particular mutant gene that you may pass on to your children.
Types of DNA test
The types of DNA test include tests that look at:
- Genes : To identify changes (mutations) in your genes that may contribute to or raise your chance of developing a genetic condition, DNA test examines your DNA. One gene, a few genes, or your entire DNA can be examined using gene testing. Genomic testing entails examining all of your DNA.
- Chromosomes : Chromosomal tests study your chromosomes or long strings of your DNA. They search for gene order alterations that could be the root of a genetic disorder. An additional copy of a chromosome is one of the modifications that are being monitored.
- Proteins : Protein tests seek for the byproducts of chemical events taking place inside our cells by analysing enzyme activity in cells. A genetic issue may result from DNA alterations that are causing problems with your proteins.
- Prenatal testing: A prenatal DNA test can be used to identify chromosomal or gene mutations in your growing child (foetus) while you are still pregnant. Not all potential illnesses are tested during prenatal testing. However, it can predict the likelihood that your baby will be born with particular problems that doctors know how to screen for. Your doctor could advise prenatal testing if the family's genetic history puts your kid at higher risk of developing a genetic disorder.
- Diagnostic examination: Specific genetic illnesses or chromosomal issues can be confirmed or ruled out through diagnostic testing. But not all genetic disorders are tested for. Although it is frequently utilised during pregnancy, diagnostic genetic testing can be done at any time to confirm a diagnosis if you exhibit signs of a certain condition.
- Carrier testing: When a disorder is autosomal recessive, it implies that a person might have the gene for it while showing no signs of the condition. You can find out if you have a mutated gene copy with a carrier test for an autosomal recessive condition. This is often done because of a condition that requires a copy of the gene from each parent and is handed down autosomal recessively in one parent's family. Therefore, if one parent has an autosomal recessive gene and knows it, the other should be tested so they may determine the likelihood of passing that disease to their children.
- Preimplantation testing: Preimplantation testing, such as in-vitro fertilisation, can detect genetic abnormalities in embryos created with assisted reproductive technologies (ART) (IVF). Your embryos' a few cells are removed, and they are examined for certain mutations. To try to create a pregnancy, only embryos free of these mutations are put in your uterus.
- Newborn screening: A two-day postnatal test will be performed on your infant. An examination of newborns where specific genetic, metabolic, or hormone-related problems or screened. Newborns are examined very shortly after birth so that, if necessary, therapy can begin right away.
- Predictive and Presymptomatic testing: Through predictive and presymptomatic testing, gene modifications that raise your chance of contracting specific diseases may sometimes be used to identify gene variants that increase your likelihood of having a genetic ailment later in life. These include specific cancers, like breast cancer. Presymptomatic testing can predict a genetic condition before you show any symptoms.
What conditions may genetic testing identify?
DNA tests or genetic testing can identify some diseases that are there in your family's genetics. Additionally, genetic testing can help to confirm or rule out a wide range of illnesses and problems like:
- Down syndrome
- Alzheimer's disease
- Cystic fibrosis
- Sickle cell illness
- Phenylketonuria.
- Cancer of the colon (colorectum).
- Ovarian cancer
What happens during a DNA test?
During a DNA test the doctor will take a sample of your blood, amniotic fluid( fluid surrounding your growing child or foetus during pregnancy), skin, hair, or tissue. Your doctor will send the sample to a lab for analysis. Technicians at the lab will check for modifications to your genes, chromosomes, or proteins. Your healthcare practitioner receives the test results from the technicians.
What are the risks or dangers of DNA tests?
The majority of genetic testing has no physical risks or dangers. There is very little chance that you might miscarry during prenatal testing ( miscarriage ). This happens when a sample of the amniotic fluid from your developing baby is used for the test.
What do a DNA test's findings mean?
Your DNA test does not always yield clear-cut findings. Your healthcare professional will interpret the findings based on the type of DNA test, your medical history, and your family history. They will then discuss the precise results with you. There might be any of the following outcomes:
- Positive : If your DNA test revealed a genetic mutation known to cause an illness, the lab detected it. This might support a diagnosis, show you are a carrier for the illness or show you have a higher chance of contracting it.
- Negative : If the results of your DNA test are negative, it means that a genetic mutation that is known to cause the disease was not discovered in your DNA. This might rule out a diagnosis, show you're not a disease carrier, or show you don't have a higher chance of getting the illness.
- Uncertain : The lab may have discovered a genetic mutation if your DNA test yields an ambiguous result. However, they were unable to gather enough data to establish whether it was normal or disease-causing. This is due to the fact that everyone's DNA undergoes natural modifications that have no impact on their health.
Important information
If you have any concern or doubt about the DNA test or the results of the DNA test, consult your doctor.
