FAT4 Gene Van Maldergem Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Developmental Disorders
The FAT4 Gene Van Maldergem Syndrome Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the FAT4 gene, which are responsible for Van Maldergem Syndrome Type 2. This rare autosomal recessive genetic disorder affects multiple body systems and requires specialized genetic testing for accurate diagnosis and proper medical management.
What Does This Test Measure and Detect?
This advanced genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the FAT4 gene for pathogenic variants. The test specifically detects:
- Point mutations, insertions, and deletions in the FAT4 gene
- Autosomal recessive inheritance patterns
- Pathogenic variants associated with Van Maldergem Syndrome Type 2
- Genetic markers for this rare developmental disorder
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with characteristic symptoms or clinical features suggestive of Van Maldergem Syndrome Type 2, including:
- Distinctive facial dysmorphism including hypertelorism and downslanting palpebral fissures
- Skeletal abnormalities such as joint laxity and digital anomalies
- Developmental delay and intellectual disability
- Hearing impairment or deafness
- Family history of similar symptoms or confirmed FAT4 gene mutations
- Unexplained multiple congenital anomalies
- Children with suspected genetic syndromes affecting multiple systems
Clinical Benefits of Genetic Testing
Undergoing the FAT4 Gene Van Maldergem Syndrome Type 2 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Van Maldergem Syndrome Type 2 with high precision
- Personalized Treatment Planning: Enables targeted medical management based on genetic findings
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Early Intervention: Facilitates timely therapeutic interventions for better outcomes
- Comprehensive Care Coordination: Guides multidisciplinary medical care involving pediatrics, genetics, and specialized therapies
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your test results:
- Positive Result: Indicates the presence of pathogenic FAT4 gene mutations consistent with Van Maldergem Syndrome Type 2 diagnosis
- Negative Result: Suggests absence of detectable FAT4 gene mutations, though clinical correlation is essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated FAT4 gene
All results are accompanied by detailed genetic counseling to ensure proper understanding and appropriate next steps.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | FAT4 Gene Van Maldergem 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 |
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, with branches 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 ensures convenient access to advanced genetic testing services regardless of your location.
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Scheduled genetic counseling session to create a detailed family pedigree
- Documentation of affected family members with similar symptoms
- Referral from your healthcare provider (recommended)
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our FAT4 Gene Van Maldergem Syndrome Type 2 NGS Genetic DNA Test provides the clarity you need for informed medical care and family planning. With our discounted price of $500 and comprehensive genetic counseling support, you can access world-class genetic testing services.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or to speak with our genetic specialists about your testing needs.
Our team of certified genetic counselors and medical professionals is ready to guide you through the testing process and help you understand your results for better health outcomes.
