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Many health conditions have genetic links, including rare diseases like inherited cancers, auto-immune deficiencies, and lysosomal storage disorders. While undergoing a genetic test, people often have several questions in mind, which include:
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Ankle Brachial Index Test
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These tests are performed using a sample of blood, hair, skin, amniotic fluid (the fluid surrounding a fetus during pregnancy), or other tissue. The clinicians may also perform a procedure called a buccal smear.
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Depending on the suspected disorder, the buccal smear is sent to a laboratory where the technicians analyze any specific changes in chromosomes, DNA, or proteins.
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Even if a doctor has advised a patient or if they have taken the decision by themselves, several doubts persist in one’s mind while going for genetic testing. First, the test results are not always straightforward, and patients may be unable to differentiate between a positive and a negative test.
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In addition, the positive result suggests further testing because your family members share the same genes; hence, if you are diagnosed with a genetic disorder, they may have some implications.
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On the other hand, a negative test result means that there were no changes in the genes, chromosomes, or protein, and the person may not be affected by a disorder, is not a carrier of a specific genetic mutation and does not have an increased risk of a particular disease.
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Interpreting the results of genetic testing can be complex; genetic counsellors can help you understand the exact impact of the disease on your body. They are also trained in medical genetics and counselling and work closely with your doctor to provide clinical and emotional advice.
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For example, if you are a cancer patient, these tests can help your healthcare team make more informed decisions on the treatments and surgical procedures that will benefit you.
