How is Fragile X Syndrome diagnosed?
- A doctor or genetic counselor can order the FMR1 DNA Test (sometimes called the "Fragile X DNA Test")
- The FMR1 DNA Test replaced chromosomal testing and became the standard of care for determining the presence of Fragile X.
- It is simple and accurate.
- It can detect both carriers and affected individuals.
- The cost of a blood test ranges from $300-$600 and results become available in 2-4 weeks.
Who should have Fragile X testing?
There are three general circumstances in which Fragile X testing should be considered:
Prenatal Testing (During Pregnancy)Pregnant women who have an FMR1 premutation or full mutation may pass that mutated gene on to their children. A prenatal test allows health care providers to detect the mutated gene in the developing fetus. This important information helps families and providers to prepare for Fragile X syndrome and to intervene as early as possible.
Possible types of prenatal tests include:
- Clinical symptoms that suggest Fragile X Syndrome, FXTAS or infertility/FXPOI.
- A family history of Fragile X Syndrome, FXTAS, intellectual or learning disabilities or Autism of unknown cause, or infertility.
- Family or personal history of a Fragile X Genetic Inheritance (carrier).
- Any male or female with intellectual disabilities, developmental delay, speech and language delay, autism or learning disabilities of unknown cause.
- Any female with infertility, elevated FSH levels, premature ovarian failure, primary ovarian insufficiency or irregular menses.
- Any adult over 50 with features of FXTAS including intention tremors, ataxia, memory loss, cognitive decline, personality change, especially in combination with a positive family history of Fragile X.
- Any preconception or pregnant woman who expresses interest in or requests Fragile X carrier testing.
Prenatal Testing (During Pregnancy)Pregnant women who have an FMR1 premutation or full mutation may pass that mutated gene on to their children. A prenatal test allows health care providers to detect the mutated gene in the developing fetus. This important information helps families and providers to prepare for Fragile X syndrome and to intervene as early as possible.
Possible types of prenatal tests include:
- Amniocentesis (pronounced am-nee-oh-sen-TEE-sis). A health care provider takes a sample of amniotic fluid, which is then tested for the FMR1 mutation.
- Chorionic villus (pronounced KOHR-ee-on-ik VILL-uhs) sampling. A health care provider takes a sample of cells from the placenta, which is then tested for the FMR1 mutation.
Fragile X Clinics serving children and adults with Fragile X Syndrome
Find a Genetic Counselor
National Society of Genetic Counselors www.nsgc.org
Note: The closest Genetic Counselor available for Saipan is in Hawaii.
References:
Testing for Fragile X. (n.d.). Retrieved November 16, 2016, from https://fragilex.org/fragile-x/testing/
Testing for Fragile X. (n.d.). Retrieved November 16, 2016, from https://fragilex.org/fragile-x/testing/