Genetic tests of any kind are carried out to identify mutations or aberrations responsible for specific diseases/ conditions.
Carrier testing is used to identify individuals who carry a single copy of a gene mutation (where two copies are needed for a disease to manifest) andhence do not present with outward symptoms as they are unaffected. However, they have the potential to have an affected child. This type of testing is offered to individuals who have a family history of a genetic disorder and to people in ethnic groups with an increased risk of specific genetic conditions.
Used to detect abnormalities in a fetus’s genes or chromosomes before birth. This type of testing is offered to couples with an increased risk of having a baby with a genetic disorder.
Pharmacogenomics refers to the effect of inherited and acquired genetic variations on drug metabolism and response in an individual. Knowledge of an individual’s genetic make-up allows one to optimize drug therapy and ensure maximum efficacy.
This type of genetic test uses special DNA markers to identify the same or similar inheritance patterns between related individuals. Based on the fact that we all inherit half of our DNA from the father, and half from the mother, DNA scientists test individuals to find the match of DNA sequences with some highly differential markers to draw the conclusion of relatedness.
To determine ancestry or ethnic heritage for genetic genealogy.
Before a person has a genetic test, it is important that he or she fully understands the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results. The process of educating a person about the test and obtaining permission to carry out the test is called informed consent. “Informed” means that the person has enough information to make an educated decision about testing; “consent” refers to a person’s voluntary agreement to have the test done.
Before a person has a genetic test, it is important that he or she fully understands the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results. The process of educating a person about the test and obtaining permission to carry out the test is called informed consent. “Informed” means that the person has enough information to make an educated decision about testing; “consent” refers to a person’s voluntary agreement to have the test done.
You doctor, medical geneticist or nurse practitioner may administer a genetic test. Depending on the type of test, a sample of your blood, skin, amniotic fluid or other tissue will be collected and sent to a lab for analysis.
A member of your health care team obtains the sample by inserting a needle into a vein in your arm. For newborn screening tests, a blood sample is taken by pricking your baby’s heel.
In some situations, a swab sample from the inside of your check is collected for genetic testing.
This pre-natal genetic test relies on a sample of the amniotic fluid. During amniocentesis, your doctor inserts a thin hollow needle through your abdominal wall and into your uterus. A small amount of amniotic fluid is then drawn into a syringe, and the needle is removed.
For this pre-natal genetic test, your doctor takes a tissue sample from the placenta. Depending on your situation, the sample may be taken with a tube (catheter) through your cervix, abdominal wall and uterus using a thin needle.
The amount of time it takes for you to receive your genetic testing results will depend on the type of test and your health care facility Talk to your doctor before the test about when you can expect the results. The lab will likely provide the test results to your doctor in writing. Your doctor can then discuss them with you.
Finding genetic diseases in unborn babies.
Finding out if people carry a gene for a disease and might pass it on to their children
Screening embryos for diseases
Testing for genetic diseases in adults before they cause symptoms
Making a diagnosis in a person who has disease symptoms
Figuring out the type or dose of medicine that is best for a person
Dhiti Omics Technologies Private Ltd
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Bengaluru - 560094, Karnataka, India