OPHN1 Gene Mental Retardation X-Linked with Cerebellar Hypoplasia and Distinctive Facial Appearance NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The OPHN1 Gene Mental Retardation X-Linked NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations associated with X-linked intellectual disability. This sophisticated testing methodology utilizes next-generation sequencing technology to analyze the OPHN1 gene, which plays a critical role in brain development and cognitive function. Early identification of these genetic variations enables healthcare providers to implement targeted interventions and management strategies that can significantly improve patient outcomes.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based test specifically targets mutations in the OPHN1 (oligophrenin-1) gene located on the X chromosome. This gene encodes a protein essential for proper neuronal development and synaptic function. The test identifies:
- Pathogenic variants in the OPHN1 gene associated with X-linked mental retardation
- Genetic mutations causing cerebellar hypoplasia (underdevelopment of the cerebellum)
- Variants linked to distinctive facial features characteristic of this syndrome
- Inheritance patterns that follow X-linked recessive transmission
- Both known and novel genetic variations through comprehensive sequencing
Who Should Consider OPHN1 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with specific clinical features or family history patterns:
Clinical Indications and Symptoms
- Male children with unexplained intellectual disability or developmental delay
- Individuals with cerebellar hypoplasia identified through brain imaging
- Patients exhibiting distinctive facial features including prominent forehead, deep-set eyes, and broad nasal bridge
- Families with a history of X-linked intellectual disability affecting multiple male relatives
- Individuals with coordination difficulties, ataxia, or motor skill impairments
- Patients with speech and language delays alongside cognitive challenges
- Those with behavioral abnormalities including hyperactivity or attention deficits
Significant Benefits of OPHN1 Genetic Testing
Undergoing OPHN1 genetic testing provides numerous advantages for patients and their families:
Diagnostic and Management Benefits
- Accurate Diagnosis: Provides definitive genetic confirmation of OPHN1-related disorder
- Early Intervention: Enables timely implementation of developmental therapies and educational support
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Care: Facilitates development of targeted treatment plans based on genetic findings
- Prognostic Information: Helps establish realistic expectations for developmental trajectory
- Research Contribution: Contributes to ongoing scientific understanding of neurological genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps patients and families interpret test findings:
Result Interpretation Guidance
- Positive Result: Indicates presence of pathogenic OPHN1 mutation, confirming diagnosis and enabling targeted management
- Negative Result: Suggests OPHN1 mutations are not the cause of symptoms, guiding further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical correlation and possible family studies
- Carrier Status: For female relatives, identifies carrier status with implications for family planning
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| OPHN1 Gene Mental Retardation X-Linked NGS Genetic DNA Test – Discount Price | $500 |
| OPHN1 Gene Mental Retardation X-Linked NGS Genetic DNA Test – Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Testing Method: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
- Department: Genetics
Pre-Test Requirements and Preparation
To ensure accurate testing and comprehensive care, we recommend:
- Complete clinical history documentation for the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications, benefits, and limitations with healthcare provider
- Informed consent process addressing potential psychological impacts
Nationwide Availability and Booking
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, San Jose, and many more cities. Our network of certified genetic counselors and neurological specialists ensures comprehensive care throughout the testing process.
Schedule Your Genetic Test Today
Take the first step toward accurate diagnosis and personalized care management. Our dedicated team is ready to assist you with scheduling, insurance questions, and genetic counseling support.
Call or WhatsApp: +1(267) 388-9828 to book your OPHN1 Genetic DNA Test appointment. Our genetic specialists are available to discuss your specific needs and guide you through the testing process with compassion and expertise.
