Tay-Sachs testing is usually done when circumstances suggest that a baby might have Tay-Sachs disease. In this case the procedure would be a physical examination which is followed by a Tay-Sachs screen test. This is essentially a blood test for the little one which checks on the production of the enzyme known as hexosaminidase A. The physical examination, which is done earlier, is used in order to either reveal any possible symptoms of Tay-Sachs disease or in order to confirm that the symptoms are of this disease.
Tay-Sachs testing is undertaken because this disease is an extremely serious one which is hereditary and has the potential to harm one’s nervous system. In such cases, the body finds that it can’t produce a critical enzyme called hexosaminidase A. While there is a possibility that the carrier of this hereditary disease could be just about any individual, there are certain populations which have a much higher risk, like the Ashkenazi Jewish population.
Since this mostly involves a blood test, your doctor will inform you of the preparation needed, if any.
The procedure for testing for Tay-Sachs disease would depend on whom the procedure is carried out. For instance, if there is a risk that the unborn child has Tay-Sachs disease, while the woman is still pregnant, the doctor might recommend the Tay-Sachs screen test. In this case the blood sample needed might be obtained from either the amniotic fluid or from the placenta. Tay-Sachs disease screening for carriers is also undertaken. In the case of babies, the blood needed for the test might be obtained from the baby’s veins or it could be taken just after birth from the infant’s umbilical cord. Once this sample is obtained, the test will confirm whether or not the blood is producing the aforementioned enzyme, hexosaminidase A. This test could also be done on teens or adults in order to determine whether there is late-onset Tay-Sachs disease. This is typically done when the individual exhibits signs of Tay-Sachs disease. Furthermore, even if the test results for Tay-Sachs disease are positive, further genetic tests may be required before making a diagnosis. If you want to know the details of how to test for Tay-Sachs kindly consult with your health care practitioner. Do not hesitate to check with your doctor about Tay-Sachs testing for both you and your child.