DYNC1H1 Gene Mental Retardation Autosomal Dominant Type 13 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Development Disorders
The DYNC1H1 Gene Mental Retardation Autosomal Dominant Type 13 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing methodology utilizes next-generation sequencing technology to identify specific mutations in the DYNC1H1 gene, which plays a crucial role in neuronal development and function. Understanding these genetic variations provides critical insights into the underlying causes of intellectual disability and enables targeted treatment approaches.
What Does This Test Measure and Detect?
Our sophisticated NGS genetic analysis specifically targets the DYNC1H1 gene located on chromosome 14q32.31. This comprehensive test detects:
- Point mutations and single nucleotide variants (SNVs)
- Small insertions and deletions (indels)
- Copy number variations affecting the DYNC1H1 gene
- Pathogenic variants associated with autosomal dominant inheritance
- Novel mutations impacting cytoplasmic dynein function
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with:
- Unexplained intellectual disability or developmental delay
- Family history of autosomal dominant mental retardation
- Neurological symptoms including motor neuron disease features
- Children with delayed motor milestones and cognitive impairment
- Individuals with suspected hereditary neurological conditions
- Patients with abnormal brain imaging findings
Clinical Benefits of DYNC1H1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Precise identification of the specific genetic cause of neurological symptoms
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive therapies and educational strategies
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of findings:
- Positive Result: Indicates the presence of a pathogenic DYNC1H1 mutation, confirming autosomal dominant mental retardation type 13 diagnosis
- Negative Result: Suggests that DYNC1H1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation and family studies
- Carrier Status: Determines inheritance patterns and recurrence risks for family members
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
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, and San Jose. Our state-of-the-art genetic testing facilities ensure consistent, high-quality results regardless of location.
Schedule Your Genetic Consultation Today
Take the first step toward understanding your genetic health. Our team of certified genetic counselors and neurological specialists are available to discuss your testing options and provide comprehensive pre-test counseling. Contact us today to schedule your appointment and begin your journey toward genetic clarity.
Call or WhatsApp: +1(267) 388-9828 to book your DYNC1H1 Gene Mental Retardation Autosomal Dominant Type 13 NGS Genetic DNA Test today. Our genetic specialists are standing by to answer your questions and guide you through the testing process with compassion and expertise.
