Fragile X Syndrome FMR1 Detection by PCR
Comprehensive Genetic Testing for Fragile X Syndrome
Fragile X Syndrome FMR1 Detection by PCR represents a cutting-edge genetic diagnostic approach that plays a crucial role in identifying one of the most common inherited forms of intellectual disability. This sophisticated molecular test provides definitive answers for families and healthcare providers seeking to understand developmental challenges and genetic inheritance patterns.
What Does This Test Measure?
The Fragile X Syndrome FMR1 Detection by PCR test specifically targets the FMR1 gene located on the X chromosome. This advanced diagnostic procedure measures:
- CGG trinucleotide repeat expansions in the FMR1 gene
- Premutation carriers (55-200 repeats)
- Full mutation status (over 200 repeats)
- Normal range repeats (less than 45 repeats)
- Intermediate or gray zone repeats (45-54 repeats)
Using End Point PCR technology, our laboratory provides precise quantification of these genetic markers, enabling accurate diagnosis and risk assessment for affected individuals and their families.
Who Should Consider This Test?
This genetic screening is particularly recommended for individuals exhibiting:
- Unexplained intellectual disabilities or developmental delays
- Autism spectrum disorder features
- Family history of Fragile X syndrome
- Learning disabilities with unknown causes
- Behavioral challenges including social anxiety
- Physical characteristics associated with Fragile X (long face, large ears)
- Women with premature ovarian insufficiency
- Adults with fragile X-associated tremor/ataxia syndrome (FXTAS)
Key Benefits of Fragile X Testing
Choosing our Fragile X Syndrome FMR1 Detection by PCR test provides numerous advantages:
- Early Intervention Opportunities: Early diagnosis enables timely educational and therapeutic interventions
- Family Planning Guidance: Identifies carrier status for informed reproductive decisions
- Accurate Diagnosis: Provides definitive answers for unexplained developmental concerns
- Comprehensive Risk Assessment: Evaluates risk for associated conditions like FXTAS and FXPOI
- Genetic Counseling Support: Facilitates appropriate genetic counseling and family education
Understanding Your Test Results
Our comprehensive reporting system provides clear interpretation of your Fragile X test results:
- Normal Results: CGG repeats below 45 indicate normal FMR1 gene function
- Intermediate/Gray Zone: 45-54 repeats may require monitoring but typically don’t cause symptoms
- Premutation Carrier: 55-200 repeats indicate carrier status with potential health implications
- Full Mutation: Over 200 repeats confirm Fragile X syndrome diagnosis
Our genetic counselors are available to help you understand your results and discuss next steps for management and family planning.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | Fragile X Syndrome FMR1 Detection by PCR |
| Discount Price | $200 USD |
| Regular Price | $250 USD |
| Turnaround Time | 3-4 days |
| Sample Type | Peripheral blood |
| Test Components | EDTA Vacutainer (2ml) |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Book Your Test Today
Take the first step toward understanding your genetic health. Our experienced team is ready to assist you with comprehensive Fragile X testing and genetic counseling services. Contact us today to schedule your appointment or learn more about our genetic testing services.
Call or WhatsApp: +1(267) 388-9828
Note: Fragile X Syndrome (FMR1) detection by PCR requires a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad.
