Genetic Testing Preparation, Procedure, Results And Counseling


Examining your DNA, the chemical code that contains instructions for your body's processes is a component of genetic testing. Your genes may have changed (mutated), which could result in sickness or illness, according to genetic testing.

There are limitations to genetic testing, despite the fact that it can offer crucial information for diagnosing, treating, and avoiding illness. For instance, a positive genetic test result does not always indicate that you will get a disease if you are healthy. On the other hand, a negative outcome may not always mean that you won't have a particular disorder.

An essential stage in the genetic testing procedure is discussing your plans with your doctor, a medical geneticist, or a genetic counsellor.

Genome analysis

When a genetic test gives an inconclusive diagnosis, some facilities provide genome sequencing, a procedure for examining a sample of DNA taken from your blood, if a genetic cause is still suspected.

Each person has a distinct genome made up of the DNA found in all of their genes. This intricate testing can assist in locating genetic variations that can be connected to your health. Typically, this testing is restricted to only examining the exome, or the regions of DNA that code for proteins.

Why is Genetic Testing Performed?

Genetic testing is crucial for determining disease risks, screening purposes, and even medical treatment. Different genetic tests are carried out for various purposes:

Diagnostic procedures. Genetic testing can determine if you have an illness that is considered to be present in you if you exhibit symptoms of a condition that may be brought on by genetic changes, often known as altered genes. For instance, genetic testing could be used to support cystic fibrosis or Huntington's disease diagnosis.

Predictive and presymptomatic testing. Before you exhibit symptoms, genetic testing can identify your likelihood of getting a condition if it runs in your family. This kind of test, for instance, may be helpful for determining your risk of various colorectal cancer types.

Carrier evaluation. You may decide to undertake genetic testing before having children if you have a family history of a genetic illness, such as sickle cell anaemia or cystic fibrosis, or if you belong to an ethnic group that is at high risk of a particular genetic disorder. If you and your partner are carriers for the same disorders, an expanded carrier screening test can find the genes linked to a wide range of genetic diseases and abnormalities.

Pharmacogenetics. This kind of genetic testing may be used to identify the drug and dosage that will work best for you if you have a certain disease or health condition.

Prenatal examination. Tests can identify some forms of abnormalities in your unborn child if you are pregnant. Two genetic conditions that are frequently checked for as part of prenatal genetic testing are down syndrome and trisomy 18 syndromes. Traditionally, blood markers or invasive tests like amniocentesis are used to determine this. Cell-free DNA testing is a more recent technique that uses a mother's blood to examine the DNA of the unborn child.

Newborn examination. The most typical kind of genetic testing is this one. This kind of genetic testing is crucial so that care and treatment may start immediately if it reveals the presence of a problem such as congenital hypothyroidism, sickle cell disease, or phenylketonuria (PKU).

Pre-implantation evaluation. This test, which is also known as preimplantation genetic diagnosis, might be applied when you try to get pregnant through in vitro fertilisation. Genetic anomalies are checked for in the embryos. In the hopes of conceiving, healthy embryos are put in the uterus.

Risk Factors

Genetic tests often pose no harm to health. Tests using cheek swabs and blood pose nearly no danger. A slight risk of miscarriage exists with prenatal testing, such as amniocentesis and chorionic villus sampling (miscarriage).

Financial, social, and emotional hazards can all be associated with genetic testing. Before you undergo a genetic test, go over all the advantages and disadvantages with your doctor, a medical geneticist, or a genetic counsellor.


Do as much research as you can on the medical history of your family before having genetic testing. Then, to better understand your risk, discuss your personal and family medical history with your doctor or a genetic counsellor. At that meeting, raise any queries or worries you may have regarding genetic testing. Discuss your possibilities as well, based on the exam findings.

You might want to think about talking to your family about your decision to receive genetic testing if you are being tested for a genetic disorder that runs in your family. You can get a feel of how your family might react to your test results and how it might affect them by having these conversations before the test.


A sample of your blood, skin, amniotic fluid or other tissue will be taken, depending on the test, and submitted to a lab for evaluation.

Blood test. A member of your medical team obtains a sample from you by sticking a needle into an arm vein. Your baby's heel will be pinched to get a blood sample for newborn screening testing.

Chin swab. Some tests need the collection of a cheek swab sample for genetic testing.

Amniocentesis. Your doctor will conduct this prenatal genetic test by inserting a little sample of amniotic fluid for analysis through your uterus and abdominal wall.

Sample of the chorionic villus. Your doctor collects tissue from the placenta for this prenatal genetic test. The sample may be collected using a fine needle or a tube (catheter) through your abdominal wall and uterus, depending on your circumstances.


Your healthcare facility and the type of test you underwent will affect how quickly you obtain the findings. Before the test, discuss the timing of the results and how you feel about them with your doctor, medical geneticist, or genetic counsellor.

Positive outcomes

The genetic change that was being tested for was found if the genetic test result is positive. Depending on why you underwent genetic testing, you may need to decide what to do next if the results are positive.

If a specific disease or condition is diagnosed, a favourable outcome will assist you and your doctor in choosing the most appropriate course of action.

When a test for a potential disease in your child is positive, your doctor, a medical geneticist, or a genetic counsellor can assist you in calculating the likelihood that the disease will actually manifest in your child. The test findings can provide you and your partner information to think about when you and your partner decide how to start a family.

Analyze your risk of contracting a specific disease; a positive test result does not guarantee that you will develop the illness. For instance, possessing the BRCA1 or BRCA2 breast cancer gene puts you at a high chance of getting the disease at some time in your life, but it does not guarantee that you will. Having a mutated gene does, however, suggest that some diseases, including Huntington's disease, will eventually manifest.

Talk to your doctor about the implications of a favourable outcome for you. Even if you have a gene that makes you more prone to an illness, in some circumstances, you can make lifestyle adjustments that may lower your risk of having a disease. Your decisions regarding treatment, family planning, career, and insurance coverage may be influenced by the results.

You may also decide to take part in studies or registries about your genetic illness or condition. You might be able to keep up with new advancements in prevention or therapy with the aid of these choices.

Negative outcomes

A negative result indicates that the test did not find a mutant gene, which can be comforting but does not completely rule out the possibility that you do not have the illness. Depending on the ailment being tested for and whether the gene mutation has already been found in a family member, different genetic tests are available to find altered genes.

You might not always acquire the disease even if you do not have the faulty gene. For instance, the majority of those who have breast cancer do not have the gene for the disease (BRCA1 or BRCA2). Furthermore, genetic testing may not detect all hereditary abnormalities.

Unresolved issues

A genetic test might not always reveal useful details about the gene under consideration. Everybody's genes differ somewhat from one another, and frequently these differences have little impact on your health.

Genetic Counseling

Regardless of the outcomes of your genetic testing, discuss any queries or worries you may have with your doctor, a medical geneticist, or a genetic counsellor. This will make it easier for you to comprehend what the outcomes signify for you and your family.

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Page last reviewed: Mar 14, 2023

Next review due: Mar 14, 2025

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