Fragile X Genetic Test
Fragile X Screening in Kenya
The Fragile X Genetic test is used to diagnose Fragile X syndrome and to determine if someone is a carrier of the defective gene that causes the Fragile X Syndrome.
Fragile X Syndrome Symptoms
Intellectual disabilities. These may range from moderate learning disabilities to more severe intellectual disabilities. The majority of males with Fragile X syndrome develop significant intellectual disability. Females usually have minor intellectual disabilities.
Distinct physical features including broad forehead, large protruding ears, squinting eyes, large testicles, prominent lower jaw, double-jointed fingers, loose joints, flat feet and high arched palate.
Females may have Fragile X-Associated Primary Ovarian Insufficiency which comprises of absent or irregular cycles, “sub-fertility” or infertility, hot flashes, and premature ovarian failure (POF), which is the complete cessation of menstrual periods before the age of 40.
Fragile X–Associated Tremor/Ataxia Syndrome which includes tremors, short-term memory problems,parkinsonism, mood instability, irritability, explosive outbursts, personality changes, or numbness/tingling of the extremities.
Poor math and reading skills.
Impotence.
Loss of bladder or bowel functions.
High blood pressure.
Thyroid disorders.
Fibromyalgia (more common in females and very common in the general population).
Disposition: people with fragile X syndrome are usually very social and friendly, have excellent imitation skills, have a strong visual memory/long term memory, like to help others, are nice, thoughtful people and have a wonderful sense of humor.
Who should Get Tested?
Fragile X screening is recommended for the following people:
Any person showing symptoms of autism or learning disabilities of unknown cause.
Any person with intellectual disabilities.
Any person with developmental delay.
Couples planning to start their families and want to know about their carrier status.
Any individual or couple going through assisted reproduction, including IVF.
Family or personal history of a Fragile X genetics and inheritance.
Any person with infertility.
Any person with speech and language delay.
Any person showing symptoms of autism or learning disabilities of unknown cause.
Any female with irregular menses, infertility, elevated follicle-stimulating hormone (FSH) levels, premature ovarian failure, or primary ovarian insufficiency.
Clinical symptoms that suggest Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome (FXTAS), or Fragile X-associated primary ovarian insufficiency (FXPOI).
A family history of FXS, FXTAS, intellectual or learning disabilities or autism of unknown cause, or infertility.
Any adult over 50 with features of FXTAS, including intention tremors, ataxia, memory loss, cognitive decline, or personality change, especially in combination with a positive family history of Fragile X.
People with a family history of a genetic mutation.
High-risk population groups for specific diseases.
Couples who are already pregnant and want to know whether their child has a risk of having a genetic disease.
Any individual wishing to know more about their genetic background.
Sperm and oocyte donors, and recipients of sperm or oocyte donation.
Required Samples
A simple cheek swab sample is needed.
Turnaround Time
Results come out in 2-3 weeks