Pregnancy & The Canavan Disease Test


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Canavan Disease is a disease that can be passed on to children from their parents, making it an inherited genetic illness which can be tested for thanks to advances in screening technologies.

What is Canavan Disease?

Canavan disease is caused by low amounts of a particular substance called aminoacylase 2. The absence of this otherwise vital compound results in progressive damage to the brain. Canavan disease is actually one of the most common diseases of its type to affect the natural brain development of infants, and as such can be a concern for parents looking to get pregnant who have a family history of Canavan disease.

The disease is what is called an autosomal recessive disease, meaning that both parents need the defective genetic material which causes the disease for there to be a chance that a child can inherit the illness. A baby would need to inherit two copies of the disease-causing gene, one from each parent, to develop the illness.

How can I test for Canavan Disease?

As a genetic illness Canavan Disease can be tested for using the appropriate genetic screen. The one used most often for this particular illness is called the Alef8 Genetic Test, which tests for the genes which cause 8 different illnesses, including Canavan Disease.

The test is easy to conduct, and all it needs is one blood sample which can be quickly taken with a minimum of discomfort. Canavan Disease is carried in about 1 person in 40, and as such is a disease that is often tested for.

Where can I receive a genetic test for Canavan Disease?

You can receive a genetic test for Canavan Disease from your regional NHS genetics service, or any one of a number of private service providers. The NHS genetics service will offer you the test upon a referral from your GP, with whom you can discuss whether or not it is a good idea to proceed with the screen. A genetic test like this can have a major impact on your life and decisions about whether to have a child or not, and as such care should be taken when considering whether or not you want to go ahead with a test.


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