GLI3 Gene Pallister-Hall Syndrome NGS Genetic DNA Test
Comprehensive Genetic Diagnosis for Rare Congenital Disorders
The GLI3 Gene Pallister-Hall Syndrome NGS Genetic DNA Test represents a cutting-edge approach to diagnosing rare genetic conditions that affect development and growth. This specialized test utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the GLI3 gene, which plays a critical role in embryonic development and cellular differentiation. Understanding genetic mutations in this gene is essential for accurate diagnosis, appropriate medical management, and informed family planning decisions.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets and analyzes the GLI3 gene located on chromosome 7p14.1. The test detects:
- Pathogenic mutations in the GLI3 gene associated with Pallister-Hall syndrome
- Various types of genetic variations including point mutations, insertions, deletions, and frameshift mutations
- Specific genetic markers that correlate with disease severity and clinical manifestations
- Inheritance patterns that help determine recurrence risks in families
The GLI3 gene encodes a transcription factor that functions as both an activator and repressor in the Sonic Hedgehog signaling pathway, crucial for proper limb development, brain formation, and organogenesis during embryonic development.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with clinical features suggestive of Pallister-Hall syndrome or related conditions:
- Newborns and children with congenital anomalies including polydactyly (extra fingers or toes)
- Individuals with hypothalamic hamartomas detected on brain imaging
- Patients with craniofacial abnormalities such as cleft palate or bifid epiglottis
- Those with developmental delays, growth hormone deficiency, or pituitary dysfunction
- Family members of individuals diagnosed with Pallister-Hall syndrome
- Couples planning pregnancy with a family history of GLI3-related disorders
- Individuals with unexplained congenital malformations affecting multiple systems
Key Benefits of GLI3 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out Pallister-Hall syndrome with high precision
- Early Intervention: Enables timely medical management and appropriate treatment planning
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Personalized Care: Guides healthcare providers in developing targeted treatment strategies
- Peace of Mind: Reduces uncertainty and provides clarity about the genetic condition
- Research Contribution: Helps advance scientific understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your test results:
- Positive Result: Indicates the presence of a pathogenic GLI3 mutation consistent with Pallister-Hall syndrome diagnosis
- Negative Result: Suggests no detectable GLI3 mutation, though clinical correlation remains important
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Determines if individuals carry mutations that could be passed to offspring
All results are accompanied by detailed explanations and recommendations for next steps, including referrals to appropriate specialists and genetic counseling services.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GLI3 Gene Pallister-Hall Syndrome NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our expert team of genetic counselors and medical professionals is ready to guide you through the testing process and provide the answers you need. With rapid turnaround times of 3-4 weeks and comprehensive support services, we make genetic testing accessible and understandable.
Book your GLI3 Gene Pallister-Hall Syndrome NGS Genetic DNA Test today by calling our dedicated genetic testing line at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health with confidence and precision.
