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Canavan Disease (spongyform degeneration leukodystrophy)

Canavan disease is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue. There is no cure, nor is there a standard course of medical treatment. Symtoms of Canavan disease (appearing in early infancy) include mental retardation and loss of motor skills. Death usually occurs in the age of 4 to 20. The disease might be cured by modern gene therapy or stem call therapy.

For detailled information on pathology of this genetic disorder, please check this link.

Canavan disease is one of the most common cerebral degenerative diseases of infancy. In the ethnic group of Askenazi Jews, about 2% of all people are carriers for this hereditary disease. Of course, the Canavan syndrome also occurs in other ethnic groups.

Canavan disease is an autosomal recessive disorder: For a child to contract Canavan Disease, both parents must be carriers of the defective gene.

In the group of Ashkenazi Jewish people, more and more  couples ask for genetic tests before marriage: If neither or only one future parent carries a mutation in the gene, the couple is not at risk for having a child with Canavan Disease. If both parents are carriers, there is a 25% chance with each pregnancy that their child will have Canavan Disease.

To our knowledge, there are only about two laboratories all over the world offering genetic tests for Canavan disease. These laboratories ask their customers for blood samples that have to be transported very carefully and expensively.

For this reason, DelphiTest developped a new genetic test based on the analysis of oral fluid samples. The customers can take the samples easily and painless at home. Samples are then mailed to our partner Delphitest International LLC in Colorado, USA. The complete coding region of the gene will be analyzed in the Delphitest DNA lab.

This genetic test allows our customers to check their disposition with very high certainty. Genetic counseling is important to assist at-risk couples in exploring their options in planning their families. In America, many rabbis advise young couples to accomplish a Canavan test.

To learn more about our test, please check out

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