Genetic Conditions


Acquired von Willebrand Disease

Acquired von Willebrand disease is a rare bleeding disorder that might be caused by other medical problems or medicines. It prevents blood from clotting properly. It is rarer than the inherited form of von Willebrand disease. Medical problems that might cause acquired von Willebrand disease include: Lymph disorders…

Alpha-1 Antitrypsin Deficiency Genetic Testing

Alpha-1 antitrypsin (AAT) is a protein normally found in the lungs and the bloodstream. It helps protect the lungs from diseases such as emphysema and chronic obstructive pulmonary disease (COPD). Some people do not make enough of this protein or they make an abnormal type of AAT, either of which can cause AAT…

Alpha-Fetoprotein (AFP) in Blood

An alpha-fetoprotein (AFP) blood test checks the level of AFP in a pregnant woman’s blood. AFP is a substance made in the liver of an unborn baby (fetus). The amount of AFP in the blood of a pregnant woman can help see whether the baby may have such problems as spina bifida and anencephaly. An AFP test can also be done…

Amniocentesis

Amniocentesis is a test to look at the fluid that surrounds your baby ( fetus ) in the uterus. Amniotic fluid has cells and other substances that can give clues about the health of your fetus. For this test, a needle is put gently through your belly into your uterus. About 2 Tbsp (30 mL) of fluid is taken out and looked…

Apolipoprotein E-4 Genetic (DNA) Test

Most people who develop Alzheimer’s disease do not have a history of the disease in their families. But if you do have a family history of Alzheimer’s disease (one or more members of a family have had the disease), then your risk of getting it is higher. When a disease is found in families, the cause could be genetic…