EXT1 Gene Langer-Giedion Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Langer-Giedion Syndrome
The EXT1 Gene Langer-Giedion Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with trichorhinophalangeal syndrome type II. This sophisticated genetic analysis utilizes next-generation sequencing technology to provide comprehensive evaluation of the EXT1 gene, which plays a critical role in skeletal development and cellular signaling pathways.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the EXT1 gene located on chromosome 8q24.11. The test detects:
- Point mutations, deletions, and insertions within the EXT1 gene
- Pathogenic variants responsible for Langer-Giedion Syndrome
- Genetic alterations affecting heparan sulfate biosynthesis
- Inheritance patterns through comprehensive genetic analysis
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Multiple osteochondromas (exostoses) affecting long bones
- Distinctive facial features including bulbous nose, thin upper lip, and prominent ears
- Intellectual disability or developmental delays
- Short stature with cone-shaped epiphyses
- Sparse scalp hair and other ectodermal abnormalities
- Family history of Langer-Giedion Syndrome
- Unexplained skeletal abnormalities in childhood
Clinical Benefits of Genetic Testing
Undergoing the EXT1 Gene Langer-Giedion Syndrome NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Langer-Giedion Syndrome with high precision
- Early Intervention: Enables timely management of skeletal complications
- Genetic Counseling: Provides essential information for family planning
- Personalized Care: Guides appropriate medical monitoring and treatment
- Risk Assessment: Determines inheritance patterns for family members
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors:
- Positive Result: Indicates the presence of pathogenic EXT1 gene mutation, confirming Langer-Giedion Syndrome diagnosis
- Negative Result: Suggests absence of detectable mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Requires further evaluation and family studies
- Carrier Status: Important information for reproductive planning
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| EXT1 Gene Langer-Giedion Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| EXT1 Gene Langer-Giedion Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Pediatrics and Genetics
- Department: Genetics
- Disease Category: Dysmorphology
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- 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, Miami, 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 location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our EXT1 Gene Langer-Giedion Syndrome NGS Genetic DNA Test provides the definitive answers you need for informed medical management and family planning. With our discounted price of only $500 USD, comprehensive genetic testing has never been more accessible.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our experienced team is ready to guide you through every step of the testing process and help you understand your genetic health.
