FLNA Gene Otopalatodigital Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Otopalatodigital Syndrome
The FLNA Gene Otopalatodigital Syndrome Type 2 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the filamin A gene, which plays a crucial role in cellular structure and function. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the FLNA gene, enabling precise detection of pathogenic variants associated with Otopalatodigital Syndrome Type 2. As an X-linked dominant disorder, this condition primarily affects males and demonstrates variable expression in females, making accurate genetic diagnosis essential for proper clinical management and family counseling.
What Does This Test Measure and Detect?
Our advanced NGS-based FLNA genetic test specifically targets and analyzes the entire coding region of the FLNA gene to identify:
- Point mutations, insertions, and deletions in the FLNA gene
- Pathogenic variants associated with Otopalatodigital Syndrome Type 2
- X-linked inheritance patterns and carrier status
- Specific genetic markers correlating with disease severity and progression
- Novel mutations that may not be detected by conventional genetic testing methods
Who Should Consider FLNA Genetic Testing?
Clinical Indications and Symptoms
This genetic test is particularly recommended for individuals presenting with the following clinical features:
- Craniofacial Abnormalities: Distinctive facial features including frontal bossing, hypertelorism, down-slanting palpebral fissures, and broad nasal bridge
- Hearing Impairment: Conductive hearing loss often requiring hearing aids or surgical intervention
- Oral Manifestations: Cleft palate, bifid uvula, or other palatal abnormalities
- Digital Anomalies: Short, broad fingers and toes with clinodactyly or syndactyly
- Skeletal Defects: Joint hypermobility, pectus excavatum, or scoliosis
- Family History: Individuals with family members diagnosed with Otopalatodigital Syndrome or related X-linked disorders
Benefits of FLNA Genetic Testing
Undergoing comprehensive FLNA genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Otopalatodigital Syndrome Type 2 with high precision
- Personalized Treatment Planning: Enables targeted interventions for hearing, skeletal, and craniofacial issues
- Reproductive Counseling: Provides essential information for family planning and genetic risk assessment
- Early Intervention: Facilitates timely management of associated complications
- Comprehensive Care Coordination: Supports multidisciplinary approach involving ENT specialists, geneticists, and orthopedic specialists
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your FLNA test results:
- Positive Result: Indicates the presence of a pathogenic FLNA mutation consistent with Otopalatodigital Syndrome Type 2 diagnosis
- Negative Result: Suggests that FLNA mutations were not detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines inheritance patterns and reproductive risks for family members
All results include detailed explanations and recommendations for follow-up care with appropriate medical specialists.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | FLNA Gene Otopalatodigital Syndrome Type 2 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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, San Jose, and many other cities. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our FLNA Gene Otopalatodigital Syndrome Type 2 NGS Genetic DNA Test provides the definitive answers you need for informed medical management and family planning. With our discounted price of only $500 and comprehensive genetic counseling support, you can access world-class genetic testing without financial burden.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
