Genetic Diseases

Carrier Testing for Tay Sachs disease and related conditions

Genetic diseases that most commonly affect ashkenazi jewish people.

Other than Tay Sachs disease, a number of other genetic conditions are more common among children of Ashkenazi Jewish people. The Tay Sachs Disease Prevention program offers carrier testing for many of these conditions. A simple cheek brush is all that is required.

If you are not of Ashkenazi Jewish ancestry please consult our service before considering testing as these tests may not be the most appropriate for you.

All of these conditions are inherited in an autosomal recessive manner. That is, both parents have to be carriers of an altered gene for the disease to occur.

The conditions that we currently test for include:

Tay Sachs disease - this is an incurable progressive condition of the central nervous system. Symptoms appear at around six months of age and often the first sign is when the baby loses the ability to smile. Blindness, paralysis and seizures follow and the child usually dies before the age of five. About 1 in 28 Ashkenazi Jews are carriers of Tay Sachs disease.

Canavan disease - this is an incurable progressive condition of the central nervous system. Canavan disease is very similar to Tay Sachs disease and children with Canavan disease usually die in childhood. About 1 in 40 Ashkenazi Jews are carriers.

Niemann-Pick Disease - this is an incurable progressive condition of the central nervous system. Niemann-Pick disease is very similar to Tay Sachs disease and children with Niemann-Pick disease usually die in very early childhood. There is no effective cure or treatment available for this condition. About 1 in 70 Ashkenazi Jews are carriers of Niemann Pick disease.

Cystic Fibrosis - this is a condition that affects the mucous secretion glands of the body, as well as the sweat glands. People who have cystic fibrosis produce a mucous which is thick and sticky. This mucous interferes with the lungs and digestive system. Affected individuals require daily therapies and life expectancy is reduced. About 1 in 25 Ashkenazi Jews are carriers of cystic fibrosis.

Fanconi anaemia - this is a condition with a wide range of symptoms including severe anaemia, immune system failure, malformations as well as kidney problems and an increased risk of leukemia. About 1 in 90 Ashkenazi Jews are carriers of Fanconi anaemia.

Familial dysautonomia - this is a neurological condition characterised by feeding difficulties, episodic vomiting, abnormal sweating, pain and temperature insensitivity which lead to problems with blood pressure which results in episodes of severe illness known as crises. There are treatments available that can improve the length and quality of a patient's life. About 1 in 30 Ashkenazi Jews are carriers of familial dysautonomia.

Bloom Syndrome - this is a condition in which there is an alteration in a gene that produces a protein that helps the DNA to repair itself. The most serious characteristics of this condition are a predisposition to cancer and infections. No effective treatment is available at this time. Individuals affected with this condition usually die from cancer. About 1 in 100 Ashkenazi Jews are carriers of Bloom syndrome.

To discuss carrier testing for any of these conditions, contact Genetic Health Services Victoria: (03) 8341 6201.