PURA Gene Mental Retardation Autosomal Dominant Type 31 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurodevelopmental Disorders
The PURA Gene Mental Retardation Autosomal Dominant Type 31 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations in the PURA gene associated with significant neurodevelopmental challenges. This advanced testing methodology provides families and healthcare providers with definitive answers regarding complex neurological conditions that often present with overlapping symptoms.
What Does This Test Measure and Detect?
This sophisticated genetic analysis specifically targets the PURA (Purine-rich element binding protein A) gene located on chromosome 5q31. The test utilizes Next-Generation Sequencing technology to comprehensively examine:
- Point mutations and single nucleotide variants in the PURA gene
- Small insertions and deletions affecting gene function
- Copy number variations impacting PURA gene expression
- Specific pathogenic variants associated with autosomal dominant mental retardation type 31
The PURA gene encodes a critical DNA/RNA-binding protein essential for normal brain development and neurological function. Mutations in this gene disrupt normal cellular processes, leading to the characteristic symptoms of PURA syndrome.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with the following clinical indications:
- Unexplained developmental delays in infancy and childhood
- Moderate to severe intellectual disability without clear etiology
- Neonatal hypotonia (low muscle tone) and feeding difficulties
- Speech and language development delays
- Seizure disorders or epilepsy of unknown origin
- Autism spectrum features or social communication challenges
- Abnormal brain imaging findings without clear diagnosis
- Family history suggestive of autosomal dominant inheritance pattern
Clinical Benefits of PURA Gene Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Definitive Diagnosis: Provides clear genetic confirmation of PURA syndrome, eliminating diagnostic uncertainty
- Personalized Management: Enables targeted therapeutic interventions and specialized care planning
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decision-making
- Prognostic Insights: Helps anticipate potential developmental trajectories and medical needs
- Research Opportunities: Connects families with ongoing clinical studies and emerging treatments
- Educational Support: Facilitates appropriate educational accommodations and specialized services
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your PURA gene test results:
- Positive Result: Identification of a pathogenic variant confirms PURA syndrome diagnosis, enabling targeted management strategies
- Negative Result: Absence of detectable PURA mutations suggests alternative genetic or environmental causes for symptoms
- Variant of Uncertain Significance: Some genetic changes require additional family studies or research correlation
- Carrier Status: Important information for family members regarding inheritance patterns
All results include detailed clinical correlation and recommendations from our board-certified genetic counselors and neurologists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
GGC DNA maintains comprehensive testing facilities across the United States, with specialized collection centers 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 Charlotte. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or your loved one is experiencing unexplained neurological symptoms or developmental challenges, the PURA Gene Mental Retardation Autosomal Dominant Type 31 NGS Genetic DNA Test could provide the answers you need. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results within the clinical context of your specific situation.
Call or WhatsApp our genetic counseling team today at +1(267) 388-9828 to schedule your consultation and testing appointment. Take control of your genetic health journey with confidence and clarity.
