Genetic testing is a form of medical test that recognises changes in chromosomes, genes, or proteins. The interpretation of a genetic test can rule out or confirm a suspect genetic disorder or help determine the chance of a person developing or passing on a genetic disorder.
Molecular medicine is a diverse field of laboratory medicine which involves chemical, physical, biological and medical techniques to describe molecular mechanisms and structures, and identify fundamental genetic and molecular errors of disease. Molecular medicine strives to understand the disease pathologies at the molecular level and the normal body functions which may let physicians apply that knowledge to design specific molecular tools for the prevention, diagnosis, prognosis, and treatment of disease.
Genetic testing involves looking for changes in:
Genetic testing is a voluntary procedure as testing has benefits and risks associated with it. However, the benefits outweigh the risks in most cases. The decision about whether to get tested or not is a personal one. A genetic counsellor or a geneticist can help by providing information regarding the advantages and disadvantages of the test and discussing the emotional and social aspects of testing.
When genetic testing does not help determine a diagnosis but still a genetic cause is suspected, genome sequencing is sometimes offered. It is a process for analysing a DNA sample taken from the blood. Every individual’s genome is unique. It is composed of DNA in all of a person’s genes. This complex testing helps identify genetic variations related to health. This testing is generally limited to just looking at the parts of the DNA called exome that encode for proteins.
Genetic testing has a very important role to play in determining the risk of developing certain types of diseases as well as screening and medical treatment. Different forms of genetic tests are performed for different reasons:
Generally, very little physical risk is associated with genetic tests. Cheek and blood swab tests have almost no risk associated with those. However, some prenatal tests like chorionic villus sampling and amniocentesis have a small risk of causing miscarriage or pregnancy loss.
Before the procedure, you must try to gather as much information as possible about the medical history of your family. Then, you must talk to a genetic counsellor or a doctor about your personal and family medical history so that they understand your risks better. You can ask questions and discuss any concerns about genetic testing with your doctor. Also, discuss your options, depending on the results of the test. If you are being tested for an inherited genetic disorder, you can consider discussing your decision to undergo genetic testing with your family.
Depending on the type of test you are recommended, your blood sample, skin sample, or a sample of your amniotic fluid or other tissue will be taken and sent to a laboratory for analysis.
The amount of time taken to receive the results of the genetic test depends on the type of test. You can talk to a genetic counsellor or a medical geneticist prior to the test regarding when you can expect to receive the results of the test and have a discussion regarding those.
Genetic disorders happen when a mutation affects your genes or when you have the wrong amount of genetic material. Genes are composed of DNA, which contain certain instructions for the functioning of the cell and the characteristics that make you unique. Half of your genes come from each biological parent and you may even inherit a genetic mutation from one of the parents or both. Sometimes genetic changes occur due to issues or mutations within the DNA. This can increase your risk of developing a genetic disorder. Some lead to symptoms at birth, while others form over time.
Genetic disorders can be:
Genetic disorders are of many types, including:
Genetic disorders may also give rise to rare diseases. Rare genetic disorders include Adrenoleukodystrophy, amyloidosis, Ehlers-Danlos syndrome, Usher syndrome, and mitochondrial diseases.
To understand the causes of genetic disorders, it is helpful to learn more about how your DNA and genes function. Most of the DNA in the genes instruct the body to produce proteins. These proteins start complex cell interactions to help you stay healthy. When a mutation happens, it affects the protein-making instructions of the genes. There could either be missing proteins or the ones you have don’t work properly. Environmental factors that could cause a genetic mutation include radiation exposure, chemical exposure, UV exposure from the sun, and smoking.
The symptoms of genetic disorders vary depending on the type of disorder, its severity, and organs affected. You may experience:
Having a family history of a genetic disorder means that you should consider genetic counselling to determine if genetic testing is right for you. Laboratory tests can typically reveal if you have genetic mutations responsible for that condition. Carrying the mutation does not always mean that you will end up with the disorder in many cases. Genetic counsellors can explain your risk and help you determine if there are steps you can take to protect your health. If you have family history for a certain type of genetic disorder, DNA testing for genetic disorders is an important part of starting a family.
The Department of Laboratory Medicine at Kokilaben Dhirubhai Ambani Hospital, Indore houses highly qualified and experienced medical professionals who are dedicated to quality service and patient care. All of the reports are created by highly qualified physicians with great accuracy. To prevent tampering with samples and deliver accurate findings, all of our laboratories adhere to international norms and quality standards. In addition to providing a wide choice of testing options, the laboratories also guarantee quick results delivery.
Access the best laboratory in Indore which provides international standard services using highly advanced equipment. The highest level of professionalism is followed during all procedures to enhance the results. Our laboratories are computerised workplaces equipped with high-end software for Hospital Information systems (HIS) on which information regarding the patient’s medical condition and reports is uploaded. All the other departments are equipped with the software so that the concerned doctors can access the patient’s data at the click of the mouse. This saves time as well as increases the efficiency of the entire treatment process.