Rett Syndrome Deletion Duplication Detection
Understanding Rett Syndrome Genetic Testing
Rett Syndrome Deletion Duplication Detection represents a crucial advancement in genetic diagnostics for neurological disorders. This specialized test focuses on identifying specific genetic abnormalities in the MECP2 gene, which plays a vital role in brain development and function. Rett Syndrome is a rare genetic neurological disorder that primarily affects females, characterized by developmental regression, loss of purposeful hand skills, and the emergence of stereotypical hand movements.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets:
- Deletions in the MECP2 gene region
- Duplications affecting the MECP2 gene
- Copy number variations impacting neurological development
- Genetic markers associated with Rett Syndrome progression
Using state-of-the-art MLPA (Multiplex Ligation-dependent Probe Amplification) technology, this test provides unparalleled accuracy in detecting even the smallest genetic variations that traditional methods might miss. The MECP2 gene, located on the X chromosome, produces a protein essential for normal brain function, and abnormalities in this gene account for approximately 95% of classic Rett Syndrome cases.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is particularly recommended for individuals displaying:
- Developmental regression between 6-18 months of age
- Loss of purposeful hand skills and emergence of hand-wringing movements
- Impaired language development and communication abilities
- Gait abnormalities and coordination difficulties
- Breathing irregularities during wakefulness
- Seizures or epileptic episodes
- Scoliosis or other orthopedic complications
- Sleep disturbances and autonomic nervous system dysfunction
High-Risk Populations
Genetic testing is especially important for:
- Females with unexplained developmental delays
- Individuals with family history of Rett Syndrome
- Patients with atypical neurological presentations
- Cases where initial genetic screening was inconclusive
Benefits of Rett Syndrome Genetic Testing
Undergoing comprehensive genetic analysis provides numerous advantages:
Early Intervention Opportunities
Early genetic confirmation enables timely implementation of therapeutic interventions, including physical therapy, occupational therapy, and communication support strategies that can significantly improve quality of life.
Accurate Diagnosis and Prognosis
Precise genetic characterization helps healthcare providers develop targeted treatment plans and provide accurate prognostic information to families.
Family Planning Guidance
Genetic results provide valuable information for family members regarding recurrence risks and reproductive decision-making.
Personalized Medical Management
Understanding the specific genetic mutation allows for tailored medical care addressing individual symptoms and complications.
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive report includes:
- Positive Result: Indicates the presence of MECP2 gene deletion or duplication, confirming Rett Syndrome diagnosis
- Negative Result: No detectable MECP2 abnormalities, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional clinical evaluation and possibly further testing
Clinical Correlation
All genetic results should be interpreted in conjunction with clinical findings by a qualified genetic counselor or neurologist. Our team provides detailed explanations and recommendations based on your specific genetic profile.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | Rett Syndrome Deletion Duplication Detection |
| Regular Price | $350 USD | Discount Price | $262 USD |
| Turnaround Time | 7-10 days |
| Sample Type | Peripheral Blood |
| Test Components | EDTA Vacutainer (2ml) |
| Testing Method | MLPA (Multiplex Ligation-dependent Probe Amplification) |
Pre-Test Instructions
Rett Syndrome deletion & duplication detection requires a Doctor’s prescription. Please note that prescriptions are not applicable for surgery and pregnancy cases or individuals planning to travel abroad.
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and Midwest regions
- Houston and Texas locations
- Miami and Florida centers
- Seattle and Pacific Northwest facilities
- Boston and New England areas
- Atlanta and Southeastern regions
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay your path to answers. Our specialized genetic testing provides the clarity needed for informed medical decisions and personalized care planning.
Ready to schedule your Rett Syndrome genetic analysis?
Call our genetic specialists today at +1(267) 388-9828 or book your appointment online to begin your journey toward genetic understanding and comprehensive care.
Our dedicated team of genetic counselors and neurological specialists are available to discuss your concerns, explain the testing process, and provide the support you need throughout your genetic testing journey.
