Leading the Fight to treatand cure Tay-Sachs, Canavan and related diseases
The Ashkenazi Jewish (Eastern European) community is considered at high risk for many genetic diseases. Interested couples can have a blood test to learn about their specific chances of having a child affected by one of these diseases. It is often referred to as the ‘Jewish Panel;’ always confirm with your doctor or genetic counselor which diseases are included in the ‘Jewish Panel’ and that both DNA and biochemical testing is done for Tay-Sachs. It is important to be screened even if your partner is not Jewish. While these diseases are more common in the Jewish community, they can affect anyone.
As this list of diseases increases rapidly, please speak to your physician/counselor about the most current list. Recent additions include Nemaline Myopathy, Usher 1F and Usher 3, Familial Hyperinsulinemia, and Dihyrolipoamide Dehydrogenase Deficiency (DLD Deficiency).
Production of this chart was underwritten by an educational grant from Genzyme Corporation.
ACOG Committee Opinion - American College of Obstetricians and GynecologistsACMG - American College of Medical GeneticsNTSAD Position Statement - Tay-Sachs Carrier Screening
* A carrier frequency of 1 in 26 means that, on average, out of 26 individuals, 1 would be a carrier and 25 would not be a carrier. ** A 95% detection rate means 95% of carriers will have their
mutation identified by DNA
carrier testing and 5% of carriers will carry a mutation that cannot be detected by the DNA carrier test. *** A combination of DNA and
enzyme assay is recommended to detect the highest number of carriers and is extremely important for people that are not of 100% Ashkenzai Jewish descent.
National Tay-Sachs & Allied Diseases Association2001 Beacon StreetSuite 204Boston, MA 02135
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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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