EPB41L1 Gene Mental Retardation Autosomal Dominant Type 11 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Development Disorders
The EPB41L1 Gene Mental Retardation Autosomal Dominant Type 11 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing method provides crucial insights into inherited intellectual disability conditions, enabling early intervention and personalized management strategies for affected individuals and families.
What This Test Measures and Detects
This specialized genetic test focuses on identifying mutations in the EPB41L1 gene, which plays a critical role in neuronal development and synaptic function. The test specifically detects:
- Pathogenic variants in the EPB41L1 gene associated with autosomal dominant mental retardation type 11
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Copy number variations (CNVs) and structural abnormalities
- Novel mutations that may contribute to neurological developmental disorders
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following symptoms or family history:
- Children or adults with unexplained intellectual disability or developmental delays
- Individuals with family history of inherited mental retardation
- Patients with neurological symptoms without clear diagnosis
- Couples planning pregnancy with family history of neurological disorders
- Individuals with developmental regression or learning difficulties
Key Benefits of EPB41L1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of autosomal dominant mental retardation type 11
- Early Intervention: Enables timely implementation of appropriate therapeutic strategies
- Family Planning Guidance: Offers valuable information for reproductive decision-making
- Personalized Management: Helps develop targeted educational and therapeutic approaches
- Genetic Counseling: Supports informed family discussions about inheritance patterns
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of EPB41L1 gene mutation associated with mental retardation type 11
- Negative Result: Suggests no detectable mutation in the EPB41L1 gene
- Variant of Uncertain Significance: Requires further clinical correlation and family studies
- Carrier Status: Important information for family planning considerations
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, reliable results nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological development disorders affect your family’s future. Our expert genetic counselors and neurologists are ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your EPB41L1 genetic test consultation and take control of your neurological health journey.
Turnaround Time: 3-4 Weeks | Sample Type: Blood, Extracted DNA, or Blood on FTA Card
