Tay Sach's Disease

Tay Sachs Disease Facts

How is Tay-Sachs disease diagnosed? A blood test can be taken to measure the body's level of hexoaminidase A (patients with Tay-Sachs lack most or all of this protein whereas levels are reduced in other forms of Hexosaminidase A deficiency). A doctor may also conduct an eye examination to see if the patient has the classic cherry-red spot in the center of the eye's macula (part of the retina). For parents and other relatives of affected children, as well as people who are concerned that they may be carriers of the disease because of their ethnicity), genetic testing is available. Prenatal diagnosis (e.g., chorionic villus sampling, amniotic fluid testing) and even preimplantation genetic diagnosis (PGD) is more complicated.

How Is Tay Sachs Disease Inherited

Tay Sachs Disease Symptoms

It is usually possible, but genetic counseling and testing are strongly recommended prior to pregnancy.