For testing purposes, the sample of the individuals is performed in various manners. The results also vary keeping in view the type of sample and the nature of genetic disorders. Some main samples that effective gene tests require are:
- Cheek Swabs or Saliva Samples: In some cases, the swab from the inside of the cheek is collected for checking the genetic issue. Sometimes saliva might be collected.
- Blood Samples: The most typical tests include sample blood for diagnosis purposes. The needle is inserted in the vein of the arm for collecting the ample blood sample for sampling.
- Chorionic villus Sampling: For this purpose, the sample of the tissue is taken from the placenta. Depending upon the type of tests involved, the sample is either taken from the cervix through a tube or from the uterus and abdominal wall using the thin needle.
- Amniocentesis: For taking a sample of amniotic fluids, the doctor inserts the needle through the abdominal wall and collect the small thin sample.
Dealing with Results:
It all depends on the health care facility as well as the type of test taken for the result to come. It is better to ask the doctor and the laboratory staff about the result so you could plan a discussion schedule with your doctor.
What if the Results Are Positive?
In case of a positive result, the genetic makeup for which the test was performed has come positive. Again it all depends upon the type of genetic testing, that the steps and precautions are based on. The doctor then accordingly prescribe medicines. You need to check the purpose of the said tests and then decide:
Situation 1: If the test has been performed to check the presence of gene causing any issue/disease in the child: If the test of this situation become positive, you need to check the probability of risk your child has towards developing the disease. The result of the test can also determine if you and your partner can plan to have future children or not.
Situation 2: If the test has been taken to check the presence of any disease or medical condition: In case of positive result under situation 2, your doctor or medical officer will share the disease management system and the required treatment.
Situation 3: In case the test has been performed to check the probability of any disease: In case of this positive test, the probability of getting the disease is increased to many folds. If you have a gene for breast cancer, it means you will develop breast cancer later in life. Thus, it is better to start medications and precautions at an earlier stage.
What if the Results Are Negative?
If the result of any test is negative, it means the gene is not present or detected. It is also pertinent to mention that it doesn’t mean that the result is 100 per cent accurate and you can never have any disorder. The accuracy of the tests also varies from person to person and from one laboratory to the other. Sometimes individuals who develop breast cancer later in their lives never show breast cancer BRCA1 or BRCA2 but ended up developing the gene for breast cancer.
You need to consult your results, both positive and negative with a good medical doctor to remain updated about the probable threats of any disease. This way you will be proactive towards taking any precautionary measures before time.