Leading the Fight to treatand cure Tay-Sachs, Canavan and related diseases
Tay-Sachs most often appears in families with no prior history of the disease. The Tay-Sachs
gene can be carried without being expressed through many generations. Before 1970, the only way to learn whether one was a Tay-Sachs carrier was to become the parent of a baby with the disease. Now, safe and reliable
carrier testing is available to identify Tay-Sachs carriers. Testing can identify carrier couples who are at risk for having an affected child before conception, or before the child is born. With this vital information, couples can explore the various options that will enable them to protect their families from the effects of this devastating disease. ANYONE can be a carrier. The carrier rate for the general population is 1/250. Some evidence suggests people of Irish / British Isle descent have an increased risk over the general population between 1/50 to 1/150. French Canadians, Louisiana Cajuns and Ashkenazi Jews are all considered high risk with a carrier rate of 1/27.NTSAD highly recommends a combination of DNA and biochemical carrier screening for the most sensitive and accurate carrier detection.DNA
mutation analysis may help clarify whether an individual carries a mutation associated with infantile Tay-Sachs, Late Onset Tay-Sachs or is a carrier of a pseudodeficiency allele. Approximately 30% of non-Ashkenazi Jewish, and 3% of Ashkenazi Jewish individuals who are identified as carriers by
enzyme analysis are carriers of a benign pseudodeficiency allele and not at increased risk to have a child with Tay-Sachs disease.A genetic counselor can help you through this complicated and overwhelming process.
ACOG Committee Opinion - American College of Obstetricians and GynecologistsACMG - American College of Medical GeneticsNTSAD Position Statement - Tay-Sachs Carrier Screening
National Tay-Sachs & Allied Diseases Association2001 Beacon StreetSuite 204Boston, MA 02135
email@example.com(617) 277-4463 phone(617) 277-0134 fax
At NTSAD, we are making a difference. Every day. Helping families and individuals find their way and providing hope by supporting research on many levels. All of this takes compassion and determination.
There is no time to waste, and families need our help. Those who are fighting today and those who will seek our help tomorrow.
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