Fragile X FMR1 Carrier Test
Understanding Fragile X Syndrome and Carrier Testing
Fragile X syndrome represents the most common inherited form of intellectual disability and the leading single-gene cause of autism spectrum disorder. The Fragile X FMR1 Carrier Test is a sophisticated genetic screening designed to identify individuals who carry mutations in the FMR1 gene that can lead to this condition. This comprehensive DNA analysis provides crucial information for family planning and genetic counseling, helping prospective parents understand their risk of passing Fragile X syndrome to their children.
What Does the Fragile X FMR1 Carrier Test Detect?
This advanced genetic test specifically analyzes the FMR1 gene located on the X chromosome to detect CGG triplet repeat expansions. The test measures:
- CGG Repeat Count: Determines the exact number of CGG repeats in the FMR1 gene
- Mutation Status: Identifies normal, intermediate, premutation, and full mutation carriers
- Carrier Risk Assessment: Evaluates the likelihood of passing the condition to offspring
- Genetic Counseling Guidance: Provides data for personalized reproductive planning
Technical Methodology
Our test utilizes Sanger Sequencing, the gold standard in genetic analysis, ensuring 99% accuracy in detecting FMR1 gene mutations. This methodology provides precise characterization of CGG repeat expansions and identifies AGG interruptions that can influence genetic stability.
Who Should Consider Fragile X Carrier Testing?
This test is particularly recommended for individuals with:
- Family history of intellectual disability or developmental delays
- Personal or family history of Fragile X syndrome
- Unexplained infertility or premature ovarian insufficiency
- Family members with tremor/ataxia syndrome (FXTAS)
- Planning pregnancy or considering family expansion
- Concerns about genetic conditions in offspring
- Ethnic background with higher carrier frequency
Clinical Indications
Women experiencing primary ovarian insufficiency or men with late-onset neurological symptoms should strongly consider testing, as these can be manifestations of FMR1 premutations.
Benefits of Fragile X Carrier Testing
- Informed Family Planning: Make educated decisions about reproductive options
- Early Intervention Planning: Prepare for potential developmental needs
- Genetic Counseling Support: Access professional guidance based on your results
- Peace of Mind: Reduce uncertainty about genetic inheritance risks
- Comprehensive Risk Assessment: Understand both maternal and paternal transmission risks
- Medical Management: Guide appropriate monitoring for associated conditions
Understanding Your Test Results
Your Fragile X FMR1 Carrier Test results will fall into one of these categories:
Normal Results (5-44 CGG Repeats)
Individuals with normal repeat sizes have minimal risk of developing Fragile X-associated conditions and low probability of passing expanded repeats to children.
Intermediate Results (45-54 CGG Repeats)
This gray zone indicates slightly elevated repeat numbers that are generally stable but may expand in future generations. Genetic counseling is recommended.
Premutation Carrier (55-200 CGG Repeats)
Premutation carriers are at risk for Fragile X-associated disorders and have significant risk of passing expanded repeats to offspring. Comprehensive genetic counseling is essential.
Full Mutation (>200 CGG Repeats)
Full mutation carriers typically manifest Fragile X syndrome symptoms and require specialized medical management and genetic counseling.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | Fragile X FMR1 Carrier Test |
| Regular Price | $450 USD |
| Discount Price | $300 USD |
| Turnaround Time | 12-15 days |
| Sample Type | Blood EDTA Tube |
| Testing Method | Sanger Sequencing |
Pre-Test Requirements
Before your appointment, please ensure you complete the Genomics Clinical Information Requisition Form (Form 20). This comprehensive form provides essential medical and family history information that helps our genetic specialists provide the most accurate interpretation of your results.
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures you can access this crucial genetic testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t leave your family’s genetic health to chance. The Fragile X FMR1 Carrier Test provides the clarity and confidence you need for informed family planning decisions. Our team of genetic counselors and molecular diagnostics specialists are ready to support you through every step of the testing process.
Ready to schedule your test? Call us today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic inheritance and securing your family’s health future.
