Canavan's disease which is also called spongy brain degeneration is not a very common disease. This disease affects about 1 in 30,000 to 40,000 children, and in the Ashkenazic Jewish community it affects 1 in 55 children.
The disease destroys the insulating sheath, called myelin surrounding the nerve cells. This degeneration is so extensive that it inhibits the brain's electrical signals from sweeping the nerve processes properly. Children with the disease cannot walk, talk, or even sit. With this knowledge obtained from reading the DNA, they can now complete prenatal testing on who parents who may carry the mutation. It also helps to understand the biology of the brain's white matter.
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Our tests are not a substitute for seeing your doctor, especially if you are suffering symptoms. Our doctors will interpret your results based on the information you have provided, but will not diagnose, consult or provide any treatment. You will be advised to see your doctor for any necessary follow-up action.
We will send you your Canavan Disease (2 common Ashkenazi mutations pY231X pE285A) blood test sample collection kit together with the details of a convenient clinic where you can go and have your sample taken.
Your Canavan Disease (2 common Ashkenazi mutations pY231X pE285A) test includes 1st class postage and packaging for you to send your blood sample directly to our laboratory for analysis. If you live in an area where you cannot rely on the post or you simply want to ensure that your sample arrives at the laboratory the following day, you may wish to send your blood sample guaranteed next day delivery for extra reassurance.
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Our medical team will comment on out-of-range blood test results and give you follow-up advice where necessary. If you need it, a PDF copy of your Canavan Disease (2 common Ashkenazi mutations pY231X pE285A) test results can be downloaded for your doctor.
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