Frequently Asked Questions
Repeats in the FMR1 gene
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What changes in the FMR1 gene cause fragile X syndrome?Genovate Laboratories2016-12-21T15:34:21+00:00
The expansion of a trinucleotide repeat in the reglulatory region of the FMR1 gene causes fragile X syndrome. Normal people have 5-44 repeats, while people affected by fragile X syndrome have >200 repeats.
What are the symptoms of fragile X syndrome?Genovate Laboratories2016-12-21T15:34:21+00:00
Fragile X syndrome causes developmental, behavioral and mental impairments in affected children. Other physical symptoms also include a long face, prominent forehead, large ears and prominent jaw.
Am I at risk of having a child with fragile X syndrome if I have a premutation allele?Genovate Laboratories2016-12-21T15:34:21+00:00
Females with a premutation allele are at risk of having a child with fragile X syndrome, because the number of repeats can expand to >200 during egg production. Males with a premutation allele will pass the premutation allele to all of their daughters (but none of their sons) but it will not expand to >200 repeats during sperm production.
What is the FMR1 gene?Genovate Laboratories2016-12-21T15:34:21+00:00
The FMR1 gene encodes FMRP – fragile X mental retardation protein. FMRP is involved in cognitive development, the development of mental abilities related to knowledge, attention, memory, judgment and reasoning. It also influences reproductive functions in women.
How common is fragile X syndrome?Genovate Laboratories2016-12-21T15:34:21+00:00
Fragile X syndrome is one of the most common inherited diseases that cause mental impairment. In all races and ethnic groups, 1 in 4000 boys and 1 in 8000 girls are affected by fragile X syndrome.
If my parents or grandparents have fragile X syndrome, am I at increased risk?Genovate Laboratories2016-12-21T15:34:21+00:00
Yes. Fragile X syndrome is an inherited disorder that can be pass from generation to generation.
How do I receive my results?dnaserver2016-12-21T15:34:22+00:00
You can choose to receive your results report by mail, email or both. The test includes one copy of the results by mail and one copy by email at no charge. The results report is issued immediately once the testing is completed.
Are my results confidential?dnaserver2016-12-21T15:34:22+00:00
Yes, your results are 100% confidential. No one will be able to access your account or your results unless you give them your confidential account login. You can change the password to your account at any time. Please remember to safeguard your login information and not share it with anyone.
How long do I have to send the samples back?dnaserver2016-12-21T15:34:22+00:00
The DNA testing kit does not have an expiry date so you can use the kit at any time. Once the DNA sample is collected, the sample should be returned to the laboratory for testing within 3 months of the collection date. The DNA sample will remain stable for 3 months at room temperature after collection.
Can I have more than one copy of the results?dnaserver2016-12-21T15:34:22+00:00
If your sample contains intact DNA, then a full DNA profile will be obtained. However, if your sample does not contain DNA or contains degraded DNA, then only a partial profile or no profile at all is obtained. Even if no profile is obtained, the cost still applies for each sample that is submitted.
Is there an age limit?dnaserver2016-12-21T15:34:22+00:00
No, there is no age limit for Fragile X Syndrome DNA Test testing. The test can be performed on individuals at any age, even newborns. The sample is collected easily and discretely using buccal swabs.
Which countries can you ship to?dnaserver2016-12-21T15:34:22+00:00
The DNA collection kits can be shipped to any country in the world.
How long will testing take?dnaserver2016-12-21T15:34:22+00:00
DNA testing begins immediately the day that your samples arrive at the laboratory and is completed within 5 to 7 business days. In some special situations, additional testing may be required, which could increase the turnaround time by a few extra days. You can check the status of your test online 24/7 using your secure account login. Your test report is released immediately once testing is complete.