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Back to Basics
In light of a few calls that have come in about screening and carrier testing, we decided to focus this issue of "Topic of the Week" on those frequently asked questions. Perhaps you can share this information with your family, friends, and through Facebook! As one network used to say..."The More You Know..."
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Genetics 101: Inheritance
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An Animated Look at How it Works
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Tay-Sachs, GM1, Sandhoff, Canavan and related genetic diseases are known as Autosomal Recessive Disorders.
Both parents must be a carrier of a defective gene to be at risk for having a child affected by the disease. That means with every pregnancy there is a 25% chance a child will be born with the disease. It also means that with every pregnancy there is a 50% chance the child will be born a healthy carrier.
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PSA for Carrier Screening by NTSAD and Boston University
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NTSAD recommends carrier screening ideally before pregnancy as part of planning for a family. Alongside a doctor and a
genetic counselor, an individual can explore what carrier screening is best. It is a simple blood test. Enzyme testing is the gold standard for Tay-Sachs carrier screening. Speak with a genetic counselor about screening for other diseases such as GM1, Sandhoff and Canavan.
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Did You Know...
NTSAD administers and funds an International Quality Control
Tay-Sachs Testing Program?
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The NTSAD International Tay-Sachs Carrier Testing Quality Control Program is a voluntary laboratory proficiency testing program. The program evaluates laboratory performance of Tay-Sachs enzyme testing in serum and leukocytes. Serum testing is the standard method. However, leukocyte testing is recommended when the person to be screened is pregnant, on birth control pills or is taking any medications which affect hormones; all which may interfere with the accuracy of the serum test.
The program, which was founded and administered by Dr. Mike Kaback at the University of California-San Diego for 25 years, is now being run in the lab of Dr. Mimi Blitzer and Dr. Erin Strovel at the University of Maryland.
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Frequently Asked Questions
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When can I have my healthy children screened to see if they are carriers?
The American Academy of Pediatrics (AAP) and the American College of Medical Genetics do not support routine carrier testing in minors when such testing does not provide health benefits in childhood. The AAP and ACMG advise against school-based testing or screening programs, because the school environment is unlikely to be conducive to voluntary participation, thoughtful consent, privacy, confidentiality, or appropriate counseling about test results.
For pregnant adolescents or for
adolescents considering reproduction,
genetic testing and screening
should be offered as clinically indicated,
and the risks and benefits
should be explained clearly. Read the full statement here.
Where should I go to be screened?
Your doctor, in conjunction with a
genetic counselor, should be able to order a blood test.
I've heard about JScreen; what is it?
JScreen
is an online genetics program that offers education counseling and screening
.
Read more here about the types of screening available and
click here to read an article about JScreen.
What do I do if my insurance won't cover the cost of carrier testing?
Generally most insurances will cover the cost if you provide them with the materials that explain why they should cover those costs. The American College of Obstetrics and Gynecology (ACOG) has
position statements on the importance of carrier testing and who is at risk. NTSAD can also provide your insurance company with an informative letter especially if there is or has been a family member affected by one the diseases.
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Your Donation Today is Hope for Tomorrow!
Our many efforts to fund research, care for families and their loved ones are made possible thanks to generous supporters worldwide.
Gifts can be made through our website
here
.
Thank you
for supporting NTSAD and
giving hope to all our families!
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__________________________________________________________________________
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National Tay-Sachs &
Allied Diseases Association
2001 Beacon Street, #204
Boston, MA 02135
(617) 277-4463
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