PHOX2A Gene Fibrosis of Extraocular Muscles Congenital Type 2 NGS Genetic DNA Test
Understanding Congenital Fibrosis of Extraocular Muscles Type 2
Congenital fibrosis of extraocular muscles type 2 (CFEOM2) represents a rare inherited disorder affecting eye movement control from birth. This condition results from mutations in the PHOX2A gene, which plays a critical role in the development of cranial nerve nuclei responsible for controlling eye muscles. The PHOX2A Gene Fibrosis of Extraocular Muscles Congenital Type 2 NGS Genetic DNA Test provides comprehensive analysis to identify these genetic variations, offering crucial diagnostic information for affected individuals and their families.
What Does This Test Measure and Detect?
Our advanced Next-Generation Sequencing (NGS) technology specifically targets the PHOX2A gene to identify pathogenic variants associated with CFEOM2. The test examines:
- Complete coding regions of the PHOX2A gene
- Exon-intron boundaries for splice site mutations
- Known pathogenic variants linked to congenital fibrosis
- Novel genetic variations with potential clinical significance
- Inheritance patterns for family risk assessment
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with:
- Congenital restriction of eye movements from birth
- Fixed downward deviation of both eyes
- Severe bilateral ptosis (drooping eyelids)
- Limited or absent horizontal eye movements
- Family history of congenital eye movement disorders
- Unexplained strabismus in infancy
- Abnormal head positioning to compensate for eye limitations
Comprehensive Benefits of Genetic Testing
Undergoing the PHOX2A genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms CFEOM2 and differentiates from other congenital eye movement disorders
- Family Planning: Enables informed reproductive decisions for affected families
- Personalized Treatment: Guides appropriate surgical interventions and management strategies
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Early Intervention: Facilitates timely management to prevent complications
- Research Contribution: Advances understanding of rare genetic eye disorders
Understanding Your Test Results
Interpretation Guidelines
Our genetic specialists provide comprehensive result interpretation:
- Positive Result: Identifies a pathogenic variant in PHOX2A gene confirming CFEOM2 diagnosis
- Negative Result: No pathogenic variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family members and reproductive planning
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Test Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: Genetic Ophthalmology
- Method: Next-Generation Sequencing (NGS) Technology
Pre-Test Requirements and Genetic Counseling
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session with our certified genetic counselors
- Development of detailed family pedigree chart
- Discussion of potential outcomes and implications
- Informed consent process
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients nationwide.
Take Action Today
Don’t let uncertainty about congenital eye movement disorders affect your quality of life. Our PHOX2A genetic test provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin your journey toward accurate diagnosis and personalized care.
Call or WhatsApp: +1(267) 388-9828 to book your PHOX2A Gene Fibrosis of Extraocular Muscles Congenital Type 2 NGS Genetic DNA Test today!
