SYNGAP1 Gene Mental Retardation Autosomal Dominant Type 5 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurodevelopmental Disorders
The SYNGAP1 Gene Mental Retardation Autosomal Dominant Type 5 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing method specifically targets mutations in the SYNGAP1 gene, which plays a critical role in synaptic function and brain development. Understanding your genetic profile through this test can provide essential insights for managing neurodevelopmental conditions and planning appropriate interventions.
What Does This Test Measure?
This sophisticated genetic test employs Next-Generation Sequencing (NGS) technology to analyze the SYNGAP1 gene comprehensively. The test specifically detects:
- Pathogenic variants in the SYNGAP1 gene associated with autosomal dominant mental retardation type 5
- Single nucleotide variants (SNVs) and small insertions/deletions (indels)
- Copy number variations affecting the SYNGAP1 gene region
- Novel mutations that may impact synaptic Ras-GTPase activating protein function
Clinical Significance of SYNGAP1 Mutations
The SYNGAP1 gene encodes a crucial synaptic protein that regulates neurotransmitter receptor trafficking and synaptic plasticity. Mutations in this gene disrupt normal brain development, leading to intellectual disability, epilepsy, and other neurodevelopmental challenges. Early identification through genetic testing enables targeted interventions and personalized treatment approaches.
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Unexplained intellectual disability or developmental delays
- Early-onset epilepsy or seizure disorders
- Autism spectrum disorder features
- Speech and language development challenges
- Motor coordination difficulties
- Family history of neurodevelopmental disorders
- Multiple affected family members suggesting autosomal dominant inheritance
Early Detection Benefits
Children and adults experiencing unexplained cognitive challenges or developmental regression may benefit significantly from SYNGAP1 testing. Early diagnosis facilitates access to appropriate educational support, therapeutic interventions, and medical management strategies tailored to individual needs.
Key Benefits of SYNGAP1 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of SYNGAP1-related disorders
- Personalized Treatment Planning: Enables targeted therapeutic approaches based on genetic findings
- Family Planning Guidance: Offers crucial information for reproductive decision-making
- Early Intervention Opportunities: Facilitates timely access to specialized therapies and educational support
- Comprehensive Genetic Counseling: Provides families with detailed understanding of inheritance patterns and recurrence risks
- Research Contribution: Helps advance scientific understanding of neurodevelopmental disorders
Understanding Your Test Results
Your SYNGAP1 genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists. Results typically fall into three categories:
Positive Result
A positive result indicates the presence of a pathogenic variant in the SYNGAP1 gene. This confirmation enables:
- Development of personalized treatment strategies
- Implementation of appropriate educational accommodations
- Family member testing recommendations
- Connection with specialized support networks
Negative Result
A negative result suggests that no pathogenic SYNGAP1 variants were detected. However, this doesn’t necessarily rule out other genetic causes for neurodevelopmental symptoms, and further testing may be recommended.
Variant of Uncertain Significance (VUS)
Some genetic changes may be classified as VUS, meaning their clinical significance is currently unknown. Our genetic counseling team will provide guidance on monitoring and potential follow-up testing.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SYNGAP1 Gene Mental Retardation Autosomal Dominant Type 5 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your SYNGAP1 genetic test, please ensure:
- Complete clinical history documentation for the patient
- Participation in a genetic counseling session
- Development of a detailed family pedigree chart
- Discussion of testing implications with healthcare providers
Nationwide Testing Availability
We proudly offer SYNGAP1 genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and neurologists ensures comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Understanding your genetic profile is the first step toward effective management of neurodevelopmental conditions. Our team of expert genetic counselors and neurologists is ready to guide you through the testing process and help interpret your results within the context of your unique clinical situation.
Ready to schedule your SYNGAP1 genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your consultation online. Take control of your genetic health journey with confidence and professional support.
