FAT4 Gene Hennekam Lymphangiectasia-Lymphedema Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Lymphatic System Disorders
The FAT4 Gene Hennekam Lymphangiectasia-Lymphedema Syndrome Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the FAT4 gene, which plays a crucial role in the development and function of the lymphatic system. This specialized test utilizes next-generation sequencing technology to provide comprehensive genetic analysis for individuals suspected of having this rare autosomal recessive disorder.
What This Advanced Genetic Test Detects
Our NGS-based genetic test specifically targets the FAT4 gene, which encodes a large transmembrane protein involved in cell adhesion and signaling pathways essential for proper lymphatic vessel development. The test identifies:
- Pathogenic variants and mutations in the FAT4 gene
- Single nucleotide polymorphisms (SNPs) associated with lymphatic disorders
- Copy number variations affecting gene function
- Novel genetic alterations contributing to disease manifestation
Who Should Consider This Genetic Test?
This specialized genetic analysis is recommended for individuals presenting with clinical features suggestive of Hennekam lymphangiectasia-lymphedema syndrome type 2, including:
Primary Clinical Indications
- Persistent lymphedema affecting limbs or facial regions
- Intestinal lymphangiectasia with protein-losing enteropathy
- Facial dysmorphism including flat facial profile and hypertelorism
- Developmental delays or intellectual disability
- Family history of lymphatic system disorders
- Unexplained growth retardation in pediatric patients
- Recurrent infections due to compromised immune function
Significant Benefits of Genetic Testing
Undergoing the FAT4 gene test provides numerous advantages for patients and healthcare providers:
Diagnostic and Clinical Benefits
- Accurate Diagnosis: Confirms or rules out Hennekam syndrome type 2 with high precision
- Personalized Treatment: Enables targeted management strategies for lymphatic complications
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely management of associated complications
- Comprehensive Care: Guides multidisciplinary approach involving genetics, pediatrics, and immunology specialists
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your FAT4 gene test results:
Result Interpretation Guidance
- Positive Result: Identification of pathogenic variants confirms diagnosis and enables targeted management
- Negative Result: Absence of known FAT4 mutations may suggest alternative diagnoses
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for reproductive planning and genetic counseling
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | FAT4 Gene Hennekam Lymphangiectasia-Lymphedema Syndrome Type 2 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) Technology |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your quality of life. Our specialized genetic testing provides the answers you need for informed healthcare decisions. Contact our genetic counseling team today to schedule your FAT4 gene test and begin your journey toward accurate diagnosis and personalized care.
Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or discuss your testing options with our genetic specialists.
