SIX3 Gene Holoprosencephaly Type 2 NGS Genetic DNA Test
Understanding Holoprosencephaly and SIX3 Gene Testing
Holoprosencephaly represents a spectrum of brain malformations characterized by incomplete separation of the cerebral hemispheres during early embryonic development. The SIX3 Gene Holoprosencephaly Type 2 NGS Genetic DNA Test specifically targets mutations in the SIX3 gene, which plays a critical role in forebrain development and patterning. This comprehensive genetic analysis provides definitive diagnosis for individuals suspected of having holoprosencephaly type 2, enabling precise medical management and informed family planning decisions.
What Does This Test Detect?
Our advanced NGS (Next-Generation Sequencing) technology comprehensively analyzes the entire SIX3 gene to identify:
- Pathogenic mutations causing holoprosencephaly type 2
- Missense, nonsense, and frameshift variants in the SIX3 gene
- Copy number variations affecting gene function
- Novel mutations not previously documented in medical literature
- Inheritance patterns for genetic counseling purposes
Clinical Significance of SIX3 Gene Mutations
The SIX3 gene encodes a homeodomain transcription factor essential for normal forebrain development. Mutations in this gene disrupt crucial signaling pathways during embryogenesis, leading to failed separation of the cerebral hemispheres. Our test provides molecular confirmation of SIX3-related holoprosencephaly, distinguishing it from other genetic forms of the condition.
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with:
- Newborns or children with midline facial abnormalities
- Developmental delays and neurological impairments
- Family history of holoprosencephaly or related brain malformations
- Prenatal ultrasound findings suggesting brain development issues
- Previous pregnancies affected by neural tube defects
- Unexplained intellectual disability with characteristic facial features
Common Clinical Presentations
Patients with SIX3 gene mutations typically exhibit:
- Cyclopia or severe hypotelorism (closely spaced eyes)
- Cleft lip and palate abnormalities
- Single central incisor
- Endocrine dysfunction due to hypothalamic involvement
- Seizure disorders and developmental regression
Benefits of SIX3 Genetic Testing
Undergoing comprehensive SIX3 gene analysis provides numerous advantages:
- Definitive Diagnosis: Molecular confirmation eliminates diagnostic uncertainty
- Personalized Treatment: Enables targeted medical management strategies
- Genetic Counseling: Provides accurate recurrence risk assessment for family planning
- Early Intervention: Facilitates timely developmental support services
- Research Contribution: Advances understanding of brain development disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of findings:
Positive Result Interpretation
A positive result indicates the presence of a pathogenic SIX3 gene mutation consistent with holoprosencephaly type 2. This confirmation enables:
- Implementation of specialized medical care protocols
- Development of individualized educational plans
- Coordination with multidisciplinary specialist teams
- Family genetic counseling and carrier testing
Negative Result Interpretation
A negative result suggests that SIX3 gene mutations are not responsible for the clinical presentation. This outcome may indicate:
- Consideration of alternative genetic causes of holoprosencephaly
- Evaluation for non-genetic factors in brain development
- Recommendation for expanded genetic testing panels
- Continued clinical monitoring and assessment
Variant of Uncertain Significance
When novel genetic variants are identified, our genetic specialists provide:
- Detailed analysis of potential clinical significance
- Recommendations for family segregation studies
- Guidance on periodic re-evaluation as research advances
- Coordination with research databases for ongoing analysis
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Test Name | SIX3 Gene Holoprosencephaly Type 2 NGS Genetic DNA Test |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with pedigree analysis
- Review of previous imaging studies and medical records
- Discussion of testing implications and potential outcomes
- Informed consent process with detailed explanation
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about brain development disorders impact your family’s future. Our specialized SIX3 gene testing provides the answers you need for informed medical decisions and comprehensive care planning. With advanced NGS technology and expert genetic interpretation, we deliver reliable results you can trust.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our compassionate team is ready to guide you through every step of the genetic testing process, from initial consultation to result interpretation and beyond.
Take control of your genetic health journey with definitive SIX3 gene analysis. Book your test now and gain the clarity needed for optimal medical management and family planning decisions.
