MECP2 Full Gene Mutation Analysis for Rett Syndrome
Understanding MECP2 Genetic Testing
The MECP2 Full Gene Mutation Analysis represents a cutting-edge diagnostic approach for identifying Rett Syndrome, a rare genetic neurological disorder that primarily affects females. This comprehensive test examines the entire MECP2 gene using advanced Sanger sequencing technology to detect mutations responsible for disrupting normal brain development and function. Early and accurate diagnosis through this specialized genetic analysis provides crucial information for managing symptoms and improving patient outcomes.
What Does the MECP2 Test Measure?
This sophisticated genetic analysis specifically targets the MECP2 gene located on the X chromosome, which produces a protein essential for normal brain development. The test detects:
- Point mutations and small deletions/insertions throughout the MECP2 gene
- Common pathogenic variants including R106W, R133C, T158M, R168X, R255X, R270X, and R294X
- Large deletions affecting multiple exons
- Novel mutations that may not be included in standard screening panels
Who Should Consider MECP2 Testing?
This genetic analysis is recommended for individuals displaying characteristic symptoms of Rett Syndrome, particularly:
- Female infants and toddlers showing normal early development followed by regression
- Children experiencing loss of purposeful hand skills and development of stereotypical hand movements
- Individuals with gait abnormalities, breathing irregularities, or seizures
- Patients with unexplained developmental delays and neurological symptoms
- Families with a history of Rett Syndrome or related neurological disorders
Clinical Indications and Symptoms
Consider MECP2 testing when observing these hallmark symptoms:
- Developmental regression between 6-18 months of age
- Loss of acquired purposeful hand skills
- Development of repetitive hand movements (hand-wringing, washing, clapping)
- Impaired language development and social engagement
- Gait abnormalities and coordination difficulties
- Breathing disturbances including hyperventilation and breath-holding
- Seizures and sleep pattern disturbances
Benefits of MECP2 Genetic Testing
Undergoing MECP2 Full Gene Mutation Analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive confirmation of Rett Syndrome, eliminating diagnostic uncertainty
- Early Intervention: Enables timely implementation of therapeutic strategies and support services
- Family Planning: Offers crucial information for genetic counseling and reproductive decision-making
- Personalized Care: Guides development of individualized treatment plans based on specific mutation types
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Contributes to ongoing scientific understanding of Rett Syndrome
Understanding Your Test Results
Your MECP2 genetic test results will fall into one of these categories:
- Positive Result: Detection of a known pathogenic mutation confirms Rett Syndrome diagnosis
- Negative Result: No mutation detected significantly reduces likelihood of classic Rett Syndrome
- Variant of Uncertain Significance: Identified genetic change requires further clinical correlation
- Novel Mutation: Previously unreported genetic variation needing additional analysis
Our genetic counselors provide comprehensive result interpretation and guidance for next steps, ensuring you fully understand the implications of your test findings.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | MECP2 Full Gene Mutation Analysis for Rett Syndrome |
| Regular Price | $500 USD |
| Discount Price | $376 USD |
| Turnaround Time | 8-10 business days |
| Sample Type | Peripheral Blood (EDTA Vacutainer 2ml) |
| Testing Method | Sanger Sequencing |
| Prescription Required | Doctor’s prescription required (not applicable for surgery, pregnancy, or travel abroad cases) |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our network of certified laboratories ensures consistent, high-quality testing standards nationwide.
Take the Next Step Toward Diagnosis
If you suspect Rett Syndrome or have concerns about developmental regression in a child, don’t wait to seek answers. Our MECP2 Full Gene Mutation Analysis provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin the journey toward understanding and managing this complex condition.
Call or WhatsApp us at +1(267) 388-9828 to book your MECP2 genetic test appointment today. Our knowledgeable staff is ready to assist you with scheduling, insurance questions, and any concerns you may have about the testing process.
