Rett Syndrome Detection Test
Understanding Rett Syndrome Genetic Testing
Rett Syndrome is a rare neurological disorder that primarily affects females and leads to severe cognitive and physical disabilities. Our Rett Syndrome Detection Test represents a breakthrough in genetic diagnostics, offering families and healthcare providers definitive answers through advanced molecular analysis. This comprehensive test specifically targets the MECP2 gene, which plays a critical role in brain development and function.
What Does the Rett Syndrome Test Measure?
This specialized genetic test employs sophisticated PCR sequencing technology to detect mutations in the MECP2 gene, which is responsible for producing a protein essential for normal brain development. The test identifies:
- Point mutations in the MECP2 gene coding regions
- Small deletions and insertions affecting gene function
- Specific genetic variants associated with Rett Syndrome presentation
- Mutation patterns that correlate with disease severity
Who Should Consider Rett Syndrome Testing?
This test is recommended for individuals displaying symptoms consistent with Rett Syndrome, particularly:
- Female children showing developmental regression between 6-18 months
- Individuals with loss of purposeful hand skills and development of repetitive hand movements
- Children experiencing gait abnormalities and motor coordination issues
- Patients with breathing irregularities during wakefulness
- Individuals with seizures or EEG abnormalities
- Children showing slowed head growth and microcephaly
Clinical Benefits of Early Detection
Early diagnosis through genetic testing provides numerous advantages:
- Enables timely intervention and appropriate therapeutic strategies
- Facilitates accurate prognosis and disease management planning
- Provides genetic counseling opportunities for family planning
- Reduces diagnostic uncertainty and unnecessary medical procedures
- Connects families with specialized support networks and resources
Understanding Your Test Results
Our comprehensive report provides clear interpretation of your genetic findings:
- Positive Result: Indicates the presence of MECP2 mutations associated with Rett Syndrome, requiring consultation with a neurologist and genetic counselor
- Negative Result: Suggests absence of detectable MECP2 mutations, though clinical evaluation remains essential
- Variant of Uncertain Significance: Requires additional clinical correlation and possibly further genetic analysis
All results are accompanied by detailed explanations and recommendations for next steps in consultation with your healthcare provider.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | Rett Syndrome Detection Test |
| Discount Price | $212 USD |
| Regular Price | $376 USD |
| Turnaround Time | 13 days (sample submitted by 11 AM) |
| Sample Type | 4 mL whole blood in Lavender top EDTA tube |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified collection centers ensures accessible testing for families nationwide.
Take the Next Step Toward Diagnosis
Don’t let uncertainty about neurological symptoms delay proper care. Our Rett Syndrome Detection Test provides the clarity needed to move forward with confidence. With our discounted price of $212 USD and comprehensive 13-day turnaround, you can obtain definitive answers quickly and affordably.
Call us today at +1(267) 388-9828 to schedule your appointment or book online through our secure portal. Our genetic specialists are ready to assist you with the testing process and answer any questions about Rett Syndrome diagnosis and management.
