I was digging around online and found a newer blogger who started discussing her family’s journey to get a diagnosis for her daughter. The story is just beginning so I’m not sure what they learned but I did read something that disturbed me. She said that they had to have numerous tests to see if their child had fragile x syndrome. The thing is that it only takes 1 test to get a diagnosis. Just 1. That’s it. I went onto the National Fragile X Foundation site (which is the fragile x bible) to see what was said about testing. I’m going to copy and paste it here but feel free to go to this link in case this is old and they may have changes.
Matthew had the chromosome test done. Rachel had both a chromosome and a FMR-1 gene test. The chromosome test came back saying she was fine. Two weeks later the other test arrived showing she did indeed have the full fragile x mutation. So please, please make sure the right test is given if your doctor is thinking your child may have fragile x or they are ruling it out after an autism diagnosis.
Many doctors are still unknowledgable about fragile x. The foundation has resources for this. You can go to this page for things you can share with your physician. My kids pediatrician was one of those clueless ones but we researched and learned together. I wouldn’t trade him in for the world because he knew he didn’t have all the answers and he was willing to do what it took to find out what we needed in order to give my fraggles the top care that they deserved.
I guess I’ll get off my soap box now and share that information. 
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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
