What is genetic screening for Canavan disease?
Canavan disease occurs with greater frequency in people of Eastern European (Ashkenazi) Jewish descent. If both parents have a nonfunctioning copy of ASPA gene, there is a 25% for each pregnancy that a child with have Canavan disease. Doctors strongly recommend that people of Ashkenazi Jewish heritage undergo carrier screening for Canavan disease. This involves a simple blood test to detect one of the two alterations in the ASPS gene that cause Canavan disease in this particular population.
Carrier screening is usually done through a doctor’s office or a hospital-based medical genetics program. The results generally take about 2 weeks. However, advances in technology are making such testing more accessible to families. JScreen is a program managed by the Emory School of Medicine’s Department of Human Genetics, provides at-home genetic screening and private counseling for Jewish people to determine their risk.
Carrier screening is most effective before beginning to start a family. Family planning is an important step for people at risk for having a child with a genetic disorder. A consultation with a genetic counselor is important to learn potential risk to the child and reproductive options for the couple. Support groups like the Canavan Foundation provide information on options for carrier couples.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/canavan-disease/living-with/8755 • DATE UPDATED: 2016-06-17
Matalon R, Michals-Matalon K. GeneReviews website. Updated August 11, 2011. Retrieved April 29, 2016, from http://www.ncbi.nlm.nih.gov/books/NBK1234/