Fragile X Carrier Screening (MFX)Back
What is fragile X syndrome and its related conditions?
Fragile X syndrome is one of the main causes of autism, a common genetic disease. Fragile X syndrome or its related diseases occurs due to lack of FMR1 genome expression. FMR1 absence affects mental development and causes many other problems.
1:151 women are fragile X carriers
A male person with fragile X syndrome will show symptoms, but a female person will only be a carrier with no obvious symptoms. The ratio of women who carry the fragile X gene to those who do not is 1:151, that is, 1 in every 151 will be a fragile X carrier*.
* Referenced from the National Fragile X Foundation.
What is fragile X syndrome and its related conditions?
Fragile X syndrome is one of the main causes of autism, a common genetic disease. Fragile X syndrome or its related diseases occurs due to lack of FMR1 genome expression. FMR1 absence affects mental development and causes many other problems.
1:151 women are fragile X carriers
A male person with fragile X syndrome will show symptoms, but a female person will only be a carrier with no obvious symptoms. The ratio of women who carry the fragile X gene to those who do not is 1:151, that is, 1 in every 151 will be a fragile X carrier*.
* Referenced from the National Fragile X Foundation.
Fragile X Carrier Screening (MFX) Q&A
The principle of Fragile X Carrier Screening (MFX)
Both Fragile X Carrier Screening & Maternal Blood Y-DNA test are included in the package. By using Polymerase Chain Reaction (PCR), this screening test examines the expansions of CGG tri-nucleotide repeats in Fragile Mental Retardation-1 (FMR1) gene on X-chromosome. Maternal Blood Y-DNA test is included in this test in order to provide more information about the state of fragile X syndrome.
Q&A
QWho needs fragile X syndrome testing?
- If the family has a history of suspected Parkinson's disease
- If there's family history of autism
- If the family has a history of intellectual development problems or slow growth
- If the family has history of fragile X syndrome
- If the family has a history of ovarian failure or early menopause
- If you are concerned about the possibility of your children inheriting fragile X syndrome (being a mother / prospective mother)
** In addition to the prospective mothers who want to take the fragile X carrier test to protect the health of their next generation, it can also be suitable for all pregnant women, as part of the prenatal check.
QWhat are the common features of Fragile X syndrome?

QI have no obvious symptoms, why do I need to be tested for Fragile X carrier (MFX)?
- Even if women show no symptoms, they may still be carriers, and there's a 50% chance that the mutated gene will be passed to the next generation, inhibiting mental development of their children.
- If you give birth to a girl, she has 50% chance to become a fragile X syndrome carrier. If you give birth to a boy, he has 50% chance of being a fragile X syndrome patient.
The abovementioned claims can be explained in the following diagram:

QWhen is the suitable time for expected mother to do Fragile X Carrier Screening (MFX)?
7 weeks pregnant or above (subject to ultrasound examination)
QAny precautions or preparations needed before doing the Fragile X Carrier Screening (MFX) test?
No special precautions or preparations are needed. Fasting is not required as well.
QHow much blood is needed for the Fragile X Carrier Screening (MFX)?
12ml blood of the expected mother
QWhen will clients have the report for Fragile X Carrier Screening (MFX) after DiagCor received the samples?
In about 1 working day after DiagCor received all the samples


