CCBE1 Gene Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1 NGS Genetic DNA Test
Understanding Hennekam Syndrome and CCBE1 Gene Testing
Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1 is a rare autosomal recessive genetic disorder characterized by abnormalities in the lymphatic system development. This comprehensive NGS genetic DNA test specifically analyzes the CCBE1 (Collagen And Calcium Binding EGF Domains 1) gene, which plays a crucial role in lymphatic vessel formation and function. Mutations in this gene disrupt normal lymphatic development, leading to the characteristic symptoms of this syndrome.
What Does This Test Measure and Detect?
Our advanced Next-Generation Sequencing (NGS) technology provides comprehensive analysis of the CCBE1 gene to identify pathogenic variants responsible for Hennekam Syndrome Type 1. The test detects:
- Point mutations, insertions, and deletions in the CCBE1 gene
- Autosomal recessive inheritance patterns
- Genetic variants affecting collagen-calcium binding domains
- Mutations impacting lymphatic endothelial cell function
- Genetic markers associated with abnormal lymphatic vessel development
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with the following symptoms or clinical features:
- Persistent lymphedema (swelling) in extremities
- Intestinal lymphangiectasia with protein-losing enteropathy
- Facial anomalies including flat facial profile, hypertelorism, and flat nasal bridge
- Developmental delays or intellectual disability
- Recurrent infections due to lymphatic dysfunction
- Family history of similar lymphatic disorders
- Unexplained hypoproteinemia or edema
Benefits of CCBE1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out Hennekam Syndrome Type 1 with high precision
- Personalized Treatment Planning: Guides targeted management strategies for lymphatic complications
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Enables proactive management of potential complications
- Differential Diagnosis: Helps distinguish from other lymphatic disorders with similar presentations
- Research Contribution: Advances understanding of rare lymphatic diseases
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your CCBE1 gene analysis:
- Positive Result: Identifies pathogenic mutations confirming Hennekam Syndrome diagnosis
- Negative Result: No disease-causing variants detected in the CCBE1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact
- Carrier Status: Detects individuals carrying one copy of mutated gene
All results include detailed clinical correlations and recommendations for follow-up care. Genetic counseling is strongly recommended to discuss results and their implications for you and your family.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of symptoms and previous diagnostic evaluations
- Informed consent for genetic testing
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients 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 state-of-the-art laboratories ensure consistent, high-quality testing regardless of location.
Take the Next Step Toward Genetic Clarity
If you or a loved one are experiencing symptoms suggestive of Hennekam Syndrome or have a family history of lymphatic disorders, our CCBE1 genetic test can provide the answers you need. Early and accurate diagnosis is crucial for effective management and improved quality of life.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your CCBE1 Gene Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1 NGS Genetic DNA Test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
