ENG Gene Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Syndrome Type 1) NGS Genetic DNA Test
Comprehensive Introduction to Hereditary Hemorrhagic Telangiectasia Testing
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Rendu-Osler-Weber Syndrome, is a rare genetic disorder that affects blood vessel formation throughout the body. The ENG Gene Hereditary Hemorrhagic Telangiectasia Type 1 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics, providing precise identification of mutations in the ENG (endoglin) gene responsible for HHT Type 1. This condition manifests through abnormal connections between arteries and veins, creating fragile blood vessels that can rupture and cause serious health complications.
The importance of this genetic test cannot be overstated, as early detection enables proactive management strategies that can significantly improve quality of life and prevent life-threatening complications. With HHT affecting approximately 1 in 5,000 to 8,000 people worldwide, accurate genetic testing provides the foundation for personalized medical care and family planning decisions.
What the ENG Gene HHT Test Measures and Detects
This advanced Next-Generation Sequencing (NGS) test specifically analyzes the ENG gene located on chromosome 9q34.11, which encodes the endoglin protein essential for proper blood vessel development. The test detects:
- Point mutations, insertions, and deletions in the ENG gene
- Pathogenic variants associated with HHT Type 1
- Novel genetic changes that may cause the disorder
- Inheritance patterns for family risk assessment
The comprehensive analysis covers all coding regions and splice sites of the ENG gene, ensuring maximum detection sensitivity for clinically significant variants. Our state-of-the-art NGS technology provides unparalleled accuracy in identifying genetic mutations that traditional methods might miss.
Who Should Consider ENG Gene HHT Testing
Clinical Indications and Symptoms
This genetic test is recommended for individuals experiencing symptoms suggestive of Hereditary Hemorrhagic Telangiectasia or those with family history of the condition. Key indications include:
- Recurrent Nosebleeds (Epistaxis): Frequent, spontaneous nosebleeds beginning in childhood or adolescence
- Cutaneous Telangiectasias: Small, red spots on the skin, particularly on the face, lips, fingers, and oral mucosa
- Gastrointestinal Bleeding: Unexplained gastrointestinal bleeding or iron deficiency anemia
- Family History: First-degree relatives diagnosed with HHT or exhibiting characteristic symptoms
- Pulmonary Arteriovenous Malformations (PAVMs): Abnormal blood vessel connections in the lungs
- Cerebral Arteriovenous Malformations (CAVMs): Blood vessel abnormalities in the brain
- Hepatic Involvement: Liver vascular malformations causing abdominal pain or high-output heart failure
At-Risk Populations
- Individuals with unexplained recurrent bleeding episodes
- Patients with multiple family members affected by similar symptoms
- Those planning pregnancy with family history of vascular disorders
- Individuals with suspected HHT but unclear clinical presentation
Significant Benefits of ENG Gene HHT Testing
Undergoing genetic testing for Hereditary Hemorrhagic Telangiectasia provides numerous advantages for patients and their families:
- Early Intervention: Enables proactive screening and management before serious complications develop
- Accurate Diagnosis: Provides definitive confirmation of HHT Type 1, eliminating diagnostic uncertainty
- Family Planning: Informs reproductive decisions and enables prenatal testing when desired
- Personalized Treatment: Guides targeted surveillance for specific organ systems at risk
- Risk Assessment: Identifies at-risk family members who may benefit from screening
- Preventive Care: Facilitates regular monitoring for pulmonary, cerebral, and hepatic complications
- Psychological Relief: Reduces anxiety associated with unexplained symptoms and provides clarity
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic counseling services help you understand your ENG gene test results:
- Positive Result: A pathogenic mutation in the ENG gene confirms HHT Type 1 diagnosis, requiring regular medical follow-up and screening for complications
- Negative Result: No mutation detected in the ENG gene, though clinical evaluation remains important as other genetic forms of HHT exist
- Variant of Uncertain Significance (VUS): A genetic change with unclear clinical impact, requiring ongoing monitoring and potential family studies
- Carrier Status: Identification of mutation carriers who may pass the condition to offspring
Post-Test Recommendations
- Regular screening for pulmonary arteriovenous malformations
- Annual dermatological examinations for new telangiectasias
- Gastrointestinal evaluation if bleeding symptoms develop
- Neurological assessment for cerebral vascular malformations
- Genetic counseling for family members
Test Information and Pricing
| Test Details | Information |
|---|---|
| Test Name | ENG Gene Hereditary Hemorrhagic Telangiectasia (Rendu-Osler-Weber Syndrome Type 1) NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialties Involved | Dermatology, Genetics, Immunology |
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas. Our state-of-the-art facilities in New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose ensure accessible testing for patients nationwide. Each location maintains the same high standards of quality, accuracy, and patient care that define our commitment to excellence in genetic diagnostics.
Take Control of Your Genetic Health Today
Don’t let uncertainty about Hereditary Hemorrhagic Telangiectasia affect your quality of life. Our ENG Gene HHT Type 1 NGS Genetic DNA Test provides the clarity you need to make informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling services, you can take proactive steps toward managing your health and protecting your family’s future.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive diagnosis and personalized care.
Our experienced genetic counselors are available to discuss your concerns, explain the testing process, and help you understand how genetic testing can benefit you and your family. Early detection through genetic testing can significantly improve outcomes and provide peace of mind for individuals at risk of Hereditary Hemorrhagic Telangiectasia.
