GLI2 Gene Holoprosencephaly Type 9 NGS Genetic DNA Test
Comprehensive Genetic Testing for Holoprosencephaly Disorders
The GLI2 Gene Holoprosencephaly Type 9 NGS Genetic DNA Test represents a significant advancement in prenatal and pediatric genetic diagnostics. This specialized test focuses on identifying mutations in the GLI2 gene, which plays a crucial role in embryonic brain development and facial formation. Holoprosencephaly type 9 is a rare congenital disorder characterized by incomplete separation of the cerebral hemispheres, often accompanied by facial abnormalities and developmental challenges.
What This Test Measures and Detects
Our advanced NGS technology provides comprehensive analysis of the GLI2 gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Copy number variations affecting the GLI2 gene
- Pathogenic variants associated with holoprosencephaly spectrum disorders
- Genetic markers for autosomal dominant inheritance patterns
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Family history of holoprosencephaly or related brain malformations
- Prenatal ultrasound findings suggesting brain development abnormalities
- Infants or children with craniofacial dysmorphism including cleft lip/palate
- Developmental delays and neurological symptoms
- Single central incisor or other midline facial defects
- Endocrine disorders combined with brain malformations
- Previous pregnancy with holoprosencephaly diagnosis
Key Benefits of GLI2 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of holoprosencephaly type 9
- Family Planning: Enables informed reproductive decisions for at-risk families
- Early Intervention: Facilitates timely medical management and supportive care
- Genetic Counseling: Includes comprehensive pre-test counseling and result interpretation
- Research Contribution: Advances understanding of GLI2-related disorders
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates the presence of a pathogenic GLI2 mutation, confirming diagnosis and enabling targeted management
- Negative Result: Suggests absence of detectable GLI2 mutations, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance risk for future generations
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | GLI2 Gene Holoprosencephaly Type 9 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3-4 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 test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Accessibility
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 counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our GLI2 Gene Holoprosencephaly Type 9 NGS Genetic DNA Test provides the answers you need with the expertise you deserve. Contact our genetic specialists today to schedule your comprehensive evaluation and begin your journey toward genetic understanding and informed healthcare decisions.
Call or WhatsApp us now at +1(267) 388-9828 to book your test or speak with our genetic counseling team. Take control of your genetic health today!
