GDI1 Gene Mental Retardation X-Linked Type 41 NGS Genetic DNA Test
Comprehensive Introduction to GDI1 Gene Testing
The GDI1 Gene Mental Retardation X-Linked Type 41 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic causes of intellectual disability and neurological developmental disorders. This specialized test focuses on the GDI1 gene, which plays a critical role in brain development and cognitive function. Mutations in this gene are specifically associated with X-linked mental retardation type 41, a condition characterized by varying degrees of intellectual disability that primarily affects males due to its X-linked inheritance pattern.
Understanding the genetic basis of neurological conditions is essential for accurate diagnosis, appropriate treatment planning, and informed family counseling. The GDI1 gene encodes the GDP dissociation inhibitor protein, which regulates small GTPases involved in neuronal signaling and synaptic plasticity. Disruptions in this gene can lead to significant developmental challenges that manifest early in childhood.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic analysis specifically targets:
- Point mutations and small insertions/deletions in the GDI1 gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Genetic variations associated with X-linked intellectual disability type 41
- Pathogenic variants that disrupt normal brain development and cognitive function
- Inheritance patterns consistent with X-linked genetic disorders
Who Should Consider GDI1 Genetic Testing?
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in early childhood
- Moderate to severe intellectual disability without known cause
- Family history suggestive of X-linked inheritance pattern of mental retardation
- Males with cognitive impairment and affected maternal relatives
- Individuals with neurological symptoms consistent with GDI1-related disorders
- Families seeking genetic counseling for family planning decisions
Significant Benefits of GDI1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of X-linked mental retardation type 41
- Family Planning Guidance: Enables informed reproductive decisions for at-risk families
- Personalized Management: Facilitates targeted interventions and educational support
- Genetic Counseling: Supports comprehensive family risk assessment and counseling
- Early Intervention: Allows for timely implementation of developmental support strategies
- Research Contribution: Contributes to ongoing understanding of neurological genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the GDI1 gene associated with X-linked mental retardation type 41. This confirmation enables:
- Definitive diagnosis and appropriate medical management
- Family member testing and carrier identification
- Implementation of targeted educational and therapeutic interventions
- Genetic counseling for family planning decisions
Negative Result Interpretation
A negative result suggests that no pathogenic mutations were detected in the GDI1 gene. However, this does not completely rule out genetic causes of intellectual disability, as other genes may be involved. Further genetic testing may be recommended based on clinical presentation.
Variant of Uncertain Significance
In some cases, genetic variations of uncertain clinical significance may be identified. Our genetic counselors provide detailed guidance on the implications of such findings and recommend appropriate follow-up testing or monitoring.
Test Pricing and Details
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- 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
- Disease Category: Neurological Disorders
Pre-Test Requirements and Preparation
To ensure accurate testing and comprehensive results, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with similar neurological symptoms
- Informed consent for genetic testing and result disclosure
Nationwide Testing Availability
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. Our network of certified genetic testing centers ensures accessibility and consistent quality standards nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological development concerns continue. Our team of expert neurologists and genetic counselors is ready to provide the comprehensive testing and support your family needs. With advanced NGS technology and specialized expertise in neurological genetics, we deliver accurate, reliable results that can transform understanding and management of genetic conditions.
Ready to schedule your GDI1 Genetic Test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health journey with confidence and professional guidance.
