Elucigene Ashplex 1

Elucigene Ashplex gel based (ARMS) assays have been developed for the rapid diagnosis of 15 mutations covering Tay-Sachs Disease, Familial Dysautonomia, Canavan Disease, Fanconi Anemia, Mucolipidosis IV, Niemann-Pick Disease, Glycogen Storage Disease and Blooms Syndrome and can be used in conjuction with Elucigene’s range of Cystic Fibrosis products to enable multiple detection of highly relevant mutations in the Ashkenazi population.

The high level of genetic homogeneity in Jews of Eastern European (Ashkenazi) descent has resulted in a significantly increased risk of particular genetic disorders. Most of these are serious, untreatable neurodegenerative diseases that result in a short life expectancy. The autosomal recessive pattern of inheritance of these diseases makes carrier screening a useful tool for disease prevention. The most widely known of these diseases is Tay-Sachs, a fatal neurodegenerative disorder that causes blindness, mental retardation and death usually by early childhood. Tay-Sachs is significantly more frequent in the Jewish population (1/3,500 newborns) than in the general non-Jewish population (1/360,000). A number of other life-threatening disorders occur with similar frequency in this population.