Ashkenazi Jewish Panel – screens for genetic diseases that occur more frequently in people of Eastern European (Ashkenazi) Jewish heritage. A positive result can help to identify if a couple has an increased chance of having a child born with one of these diseases. There are 8 diseases commonly screened for including: 1.) Bloom syndrome – small size at birth, growth retardation, skin pigmentation (redness), increased number of respiratory tract and ear infections, immunodeficiency, predisposition to cancer and chromosomal instability. 2.) Canavan disease – progressive loss of brain tissue characterized by increased head circumference, decreasing motor activity, progressive loss of visual responsiveness and mental retardation. 3.) Cystic Fibrosis – recurrent lung infections, impaired absorption of nutrients from food/malnutrition and infertility. 4.) Familial dysauonomia – abnormal function of the nervous system causing lack of coordination, decreased/inability to sense pain, excessive sweating, delays in speech and motor skills and gastrointestinal complications. 5.) Fanconi anemia group C – deficient bone development and bone marrow function causing decreased numbers of blood cells, problems with heart or kidneys, abnormalities of arms and legs and increased risk of cancer. 6.) Gaucher disease – an enzyme deficiency that may cause enlarged liver and spleen, an abnormally low number of platelets (blood cells involved in clotting), anemia (less than the normal number of blood cells) and bone pain, lesions, or fractures. Niemann-Pick disease – caused by diminished enzyme activity. Type A is usually fatal within 2-3 years. Characteristics include: enlarged liver and spleen and progressive mental and physical degeneration. Type B also have enlarged liver and spleen but have little or no neurologic issues. They also tend to survive much longer. 8.) Tay-sachs disease – a neurodegenerative disorder caused by an enzymatic deficiency. Symptoms typically include: developmental retardation followed by paralysis, dementia, seizures and blindness.
3 other less common diseases that may also be tested for include: 1.) Maple Syrup Urine Disease (MSUD) – an inherited disorder in which the body is unable to process certain parts of proteins (called amino acids) properly. It is characterized by poor feeding, vomiting, lack of energy, seizures, and developmental delay. The urine of affected infants has a distinctive sweet odor, much like burned caramel. I f untreated it can lead to mental retardation and death in early childhood. 2.) Mucolipidosis (type IV) – is caused by alterations to a protein believed to be involved in essential cell processes which leads to the accumulation of specific harmful substances throughout the body. Symptoms include: varying levels of motor and mental retardation, developmental delays, eye complications such as corneal clouding and retinal degeneration. 3.) Glycogen Storage Disease (type 1a) – results from the absence of a key enzyme found in the liver, kidneys and intestines that affects the conversion of glycogen into glucose. This results in an excessive accumulation of glycogen in these organs. Symptoms include: abnormally enlarged organs, increased concentrations of lactic acid and abnormal elevation of lipids (fat) in the bloodstream.