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Additional Ashkenazi Jewish Disease Carrier Tests

In addition to Tay-Sachs Disease, Canavan Disease, and Familial Dysautonomia previously available, the lab at the Hospital for Sick Children now offers screening for Bloom Syndrome, Fanconi Anemia Type C, Niemann-Pick Disease Type A, and Mucolipidosis IV which are more common in the Ashkenazi Jewish population than in other ethnic or religious groups. These diseases are inherited in an autosomal recessive manner so both parents must be carriers for the same disease in order to have a child with the condition. Many of these diseases are severely incapacitating, resulting in death in infancy or early childhood. Please see brief descriptions below.

It is important to remember that the diseases are not exclusive to the Ashkenazi population and that people of non-Jewish or Sephardi backgrounds can also be carriers, but at a lower frequency. The detection rate for non Ashkenazi people is different.

Further information and requisitions are available at www.whatsinyourgenes.com or www.sickkids.ca/molecular. Testing can be arranged through your family doctor upon request.

What are the diseases? (in alphabetical order, not necessarily reflecting severity)

BLOOM SYNDROME is carried by approximately 1% of the Ashkenazi Jewish population. It is characterized by poor growth, redness of skin, increased incidence of respiratory and ear infections, infertility or reduced fertility and a greater risk of cancer. IQ is normal.

FANCONI ANEMIA is a blood disorder. Type C Fanconi Anemia occurs with increased frequency among Ashkenazi Jews. It usually presents in early childhood with anemia, bleeding episodes, bruising and often abnormalities of the heart, kidneys or limbs, with a higher risk of cancer.

MUCOLIPIDOSIS TYPE IV (ML4) is characterized by progressive neurological and physical deterioration, diminished muscle tone and eye complications.

NIEMANN-PICK DISEASE TYPE A. Only Type A is more frequent in the Ashkenazi Jewish population. It is a severe neurodegenerative disorder of infancy with progressive mental and physical deterioration and enlargement of the spleen and liver.

Testing for other conditions more common in the Ashkenazi population are at present not covered by OHIP unless you have a family history of that condition. If you do, testing can be arranged. If not, testing is available at personal cost.

Annette Feigenbaum MD
Medical Advisor
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