TUBB3 Gene Fibrosis of Extraocular Muscles Congenital Type 3A NGS Genetic DNA Test
Understanding Congenital Fibrosis of Extraocular Muscles Type 3A
Congenital fibrosis of extraocular muscles type 3A (CFEOM3A) is a rare genetic disorder affecting eye movement control from birth. This condition results from mutations in the TUBB3 gene, which encodes beta-tubulin isotype III, a crucial protein component of microtubules essential for proper neuronal development and function. The TUBB3 gene plays a vital role in the formation and maintenance of cranial nerves that control eye movements, particularly the oculomotor nerve (cranial nerve III).
What This Advanced Genetic Test Detects
Our comprehensive NGS genetic DNA test specifically analyzes the TUBB3 gene to identify pathogenic variants responsible for CFEOM3A. The test examines:
- Complete TUBB3 gene sequencing using next-generation technology
- Point mutations, insertions, and deletions affecting gene function
- Variants that disrupt microtubule dynamics and neuronal development
- Genetic changes impacting oculomotor nerve formation and function
Clinical Features and Symptoms
Individuals who should consider this test typically present with:
- Restricted eye movements in multiple directions
- Congenital ptosis (drooping eyelids)
- Strabismus (misaligned eyes) present from birth
- Abnormal head positions to compensate for limited eye mobility
- Family history of similar eye movement disorders
- Developmental delays in some cases
- Facial weakness or asymmetry
Benefits of TUBB3 Genetic Testing
Undergoing this specialized genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms CFEOM3A and differentiates from other ocular motility disorders
- Treatment Guidance: Informs appropriate surgical and therapeutic interventions
- Genetic Counseling: Provides essential information for family planning decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Enables timely management strategies for optimal outcomes
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies a pathogenic TUBB3 variant confirming CFEOM3A diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains important
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Important information for family members and reproductive planning
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | TUBB3 Gene Fibrosis of Extraocular Muscles Congenital Type 3A 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 |
Pre-Test Requirements
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Ophthalmological examination and assessment
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Genetic Health Today
Don’t let uncertainty about congenital eye movement disorders affect your quality of life. Our advanced TUBB3 genetic testing provides the clarity you need for proper diagnosis and management. With our discounted pricing at $500 USD and comprehensive nationwide coverage, accessing this crucial genetic information has never been more convenient.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book your TUBB3 gene test. Our experienced genetic specialists are ready to guide you through the testing process and help you understand your results.
