MYO18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Congenital Disorders
The MYO18B Gene Klippel-Feil Syndrome Type 4 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare congenital conditions. This specialized test focuses on identifying mutations in the MYO18B gene, which plays a critical role in skeletal development and muscle function. Klippel-Feil Syndrome Type 4 is characterized by congenital fusion of cervical vertebrae, progressive muscle weakness (myopathy), and distinctive facial features, making early and accurate diagnosis essential for proper management and treatment planning.
What Does This Genetic Test Detect?
Our advanced Next Generation Sequencing (NGS) technology enables comprehensive analysis of the MYO18B gene to identify:
- Autosomal dominant mutations in the MYO18B gene
- Specific genetic variants associated with Klippel-Feil Syndrome Type 4
- Pathogenic mutations causing congenital spinal abnormalities
- Genetic markers linked to progressive myopathy development
- Variants responsible for characteristic facial dysmorphism
Advanced NGS Technology for Precision Diagnosis
Utilizing cutting-edge Next Generation Sequencing, this test provides unparalleled accuracy in detecting even the most subtle genetic variations. The comprehensive analysis covers the entire coding region of the MYO18B gene, ensuring no mutation goes undetected. This high-resolution approach delivers reliable results that form the foundation for personalized medical management strategies.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with:
- Congenital fusion of cervical vertebrae (Klippel-Feil anomaly)
- Progressive muscle weakness and wasting (myopathy)
- Distinctive facial features including widely spaced eyes, low-set ears
- Limited neck mobility and short neck appearance
- Family history of similar skeletal and muscular abnormalities
- Unexplained developmental delays with spinal involvement
- Suspected autosomal dominant inheritance patterns
Clinical Indications and Symptoms
Patients experiencing symptoms such as restricted neck movement, muscle fatigue, unusual facial characteristics, or multiple family members with similar conditions should strongly consider this genetic evaluation. Early diagnosis through this test can significantly impact treatment outcomes and quality of life.
Benefits of MYO18B Genetic Testing
- Accurate Diagnosis: Provides definitive identification of MYO18B gene mutations
- Family Planning Guidance: Enables informed reproductive decisions for affected families
- Personalized Treatment: Guides targeted therapeutic interventions based on genetic profile
- Early Intervention: Facilitates proactive management of potential complications
- Genetic Counseling: Supports comprehensive family risk assessment and education
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic specialists:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the MYO18B gene associated with Klippel-Feil Syndrome Type 4. This confirmation enables:
- Development of comprehensive management plans
- Coordination with orthopedic and neurological specialists
- Implementation of preventive measures for potential complications
- Family member screening recommendations
Negative Result Interpretation
A negative result suggests no detectable mutations in the MYO18B gene, though clinical correlation remains essential. Our genetic counselors will provide guidance on:
- Alternative diagnostic considerations
- Additional testing options if symptoms persist
- Ongoing monitoring recommendations
Variant of Uncertain Significance (VUS)
In cases where genetic variations of unknown clinical significance are identified, our team provides:
- Detailed explanation of findings
- Recommendations for family studies
- Guidance on periodic re-evaluation as research advances
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | MYO18B Gene Klippel-Feil Syndrome Type 4 Autosomal Dominant with Myopathy and Facial Dysmorphism NGS Genetic DNA Test | – |
| Discount Price | Special promotional rate | $500 |
| Regular Price | Standard testing fee | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One drop Blood on FTA Card | – |
| Testing Method | Next Generation Sequencing (NGS) | – |
Pre-Test Requirements and Preparation
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to document family pedigree
- Detailed information about affected family members
- Comprehensive medical documentation of symptoms
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures accessible, reliable service regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our MYO18B Gene Klippel-Feil Syndrome Type 4 NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With our specialized expertise in genetic disorders and dysmorphology, we’re committed to delivering accurate, compassionate care.
Ready to Schedule Your Test?
Contact our genetic specialists today to begin your diagnostic journey. Call us at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions, discuss testing options, and provide the support you need throughout the genetic testing process.
Take the first step toward genetic clarity – schedule your MYO18B genetic test today and gain the insights needed for better health management and peace of mind.
