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Testing for Fragile X
Guidelines of the National Fragile X Foundation

 The Fragile X DNA test

Until 1991, the only laboratory test for Fragile X was a chromosome test. In 1991 a DNA test, the FMR-1 gene test, was introduced. This is the most accurate test (99+%) for detecting Fragile X. Chromosome testing is still available for other genetic conditions and for other diagnostic purposes. In some cases, your physician may want to have both the Fragile X DNA test and a chromosome test performed. When testing specifically for Fragile X, please be certain that your physician or genetic counselor is requesting the FMR-1 DNA gene test. The blood test usually costs between $300-$600 and results are often available in 2-4 weeks.

In most cases you will be directed to go to a blood drawing station to get the blood drawn. Though this is often referred to as a "lab", it is not the actual lab doing the DNA test. After the blood is drawn it is sent to a specific genetics or "reference" lab for the actual genetic study.

To facilitate this testing we strongly encourage the involvement of a genetic counselor in this process. A physician or genetic counselor must order any genetic testing. Your counselor can help make certain that the correct drawing, shipping and running of the sample occurs. The genetic counselor is trained and experienced in the interpretation and explaining of the test results. She/he can coordinate any follow up appointments and work with your physician to make referrals to resources in your area. You can locate a genetic counselor in your area by logging on to the National Society of Genetic Counselors website at www.nsgc.org or contacting the medical center or children's hospital in your area.

Early in the development of this testing, the number of laboratories equipped to perform this testing was limited. However, in the last 5-10 years many laboratories have acquired the technology and expertise to perform the FMR-1 DNA test. If your insurance company is paying for the testing (or state/public insurance such as Medicaid) it is likely that the sample will go to the laboratory with which they are contracted. If you are paying for the test yourself, your physician or genetic counselor can locate a genetics lab in your area or one with which they have a relationship. The National Fragile X Foundation can assist your provider in locating a laboratory as well. For providers only, there is also a listing of laboratories, which provide genetic testing on www.Genetests.org .

National Fragile X Foundation
PO Box 37
Walnut Creek, CA 94597
USA
800-688-8765
NATLFX@FragileX.org

 

 

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