KIF21A Gene Fibrosis of Extraocular Muscles Congenital Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Congenital Eye Movement Disorders
The KIF21A Gene Fibrosis of Extraocular Muscles Congenital Type 1 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for congenital ophthalmoplegia conditions. This advanced genetic analysis specifically targets mutations in the KIF21A gene, which plays a critical role in the development and function of cranial nerves controlling eye movement. Understanding the genetic basis of CFEOM1 enables healthcare providers to deliver personalized care strategies and accurate prognostic information.
What Does This Test Measure and Detect?
This sophisticated genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the KIF21A gene for pathogenic variants associated with congenital fibrosis of extraocular muscles type 1. The test specifically identifies:
- Missense mutations in the KIF21A motor domain
- Pathogenic variants affecting kinesin motor protein function
- Genetic alterations that disrupt ocular motor nerve development
- Inheritance patterns for family counseling purposes
- Specific mutation types correlated with disease severity
Who Should Consider This Genetic Test?
This specialized genetic analysis is recommended for individuals presenting with specific clinical features or family history patterns:
- Infants and children with congenital limitation of eye movements
- Patients diagnosed with congenital ptosis (drooping eyelids)
- Individuals with strabismus present from birth
- Patients with family history of congenital eye movement disorders
- Those with abnormal head positions to compensate for restricted eye movement
- Individuals undergoing differential diagnosis for congenital ophthalmoplegia
- Families seeking genetic counseling for inheritance risk assessment
Clinical Benefits of KIF21A Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages for patients and their families:
- Accurate Diagnosis: Confirms CFEOM1 with molecular precision, eliminating diagnostic uncertainty
- Treatment Planning: Guides appropriate surgical interventions and management strategies
- Genetic Counseling: Provides essential information for family planning and recurrence risk assessment
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Enables timely management to optimize visual development in children
- Differential Diagnosis: Distinguishes CFEOM1 from other congenital eye movement disorders
Understanding Your Test Results
Your genetic test results will provide clear, clinically actionable information:
- Positive Result: Indicates the presence of a pathogenic KIF21A mutation, confirming CFEOM1 diagnosis
- Negative Result: Suggests absence of detectable KIF21A mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical interpretation
- Carrier Status: Important for family members and reproductive planning considerations
All results include comprehensive interpretation by board-certified genetic specialists and recommendations for appropriate follow-up care and management strategies.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | KIF21A Gene Fibrosis of Extraocular Muscles Congenital Type 1 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 |
| Testing Method | Next Generation Sequencing (NGS) Technology |
Nationwide Accessibility and Convenience
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, and many other cities. Our nationwide network ensures accessible genetic testing services regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about congenital eye movement disorders affect your quality of life. Our comprehensive KIF21A genetic testing provides the answers you need for informed medical decisions and family planning. Our genetic counselors are available to discuss your specific situation and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your KIF21A Gene Fibrosis of Extraocular Muscles Congenital Type 1 NGS Genetic DNA Test. Take control of your genetic health with confidence and precision.
