EXT1 Gene Exostoses Multiple Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Multiple Exostoses
The EXT1 Gene Exostoses Multiple Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for individuals and families affected by Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas. This sophisticated genetic test utilizes Next Generation Sequencing technology to provide accurate detection of mutations in the EXT1 gene, which plays a critical role in skeletal development and bone growth regulation.
What Does This Test Measure and Detect?
This advanced genetic screening specifically targets the EXT1 gene located on chromosome 8q24.11, which encodes exostosin-1, a glycosyltransferase essential for heparan sulfate biosynthesis. The test identifies:
- Point mutations, deletions, and insertions in the EXT1 gene
- Pathogenic variants associated with multiple exostoses development
- Genetic markers for autosomal dominant inheritance patterns
- Specific mutations that correlate with disease severity and progression
Who Should Consider This Genetic Test?
This test is recommended for individuals experiencing:
- Multiple bony growths (exostoses) on long bones
- Family history of Hereditary Multiple Exostoses
- Unexplained skeletal deformities or limb length discrepancies
- Children with early-onset bone growth abnormalities
- Individuals with compression of nerves or blood vessels due to bone growths
- Patients with restricted joint movement or chronic pain
- Those planning family who have HME in their medical history
Clinical Benefits of EXT1 Genetic Testing
Undergoing the EXT1 Gene Exostoses Multiple Type 1 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms HME diagnosis with molecular precision
- Family Planning Guidance: Provides information about inheritance risk for future generations
- Personalized Treatment: Enables targeted monitoring and intervention strategies
- Early Detection: Allows for proactive management in at-risk family members
- Psychological Relief: Reduces uncertainty and provides clarity about condition
- Comprehensive Care: Facilitates multidisciplinary approach involving orthopedics, genetics, and dermatology
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical professionals:
- Positive Result: Indicates the presence of a pathogenic EXT1 gene mutation, confirming Hereditary Multiple Exostoses diagnosis
- Negative Result: Suggests no detectable EXT1 mutation, though clinical evaluation remains important
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines inheritance patterns and risk assessment for family members
All positive results include comprehensive genetic counseling to help you understand the implications for your health and family planning decisions.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | EXT1 Gene Exostoses Multiple Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 test, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed 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 cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures easy access to this vital genetic testing service.
Take Control of Your Genetic Health Today
Don’t let uncertainty about Hereditary Multiple Exostoses affect your quality of life. Our comprehensive EXT1 genetic testing provides the answers you need for informed healthcare decisions. With our discounted price of $500 USD and expert genetic counseling support, you can gain valuable insights into your genetic health.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and planning for your future.
