FOXL2 Gene Blepharophimosis Epicanthus Inversus and Ptosis NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Eye Disorders
The FOXL2 Gene Blepharophimosis Epicanthus Inversus and Ptosis NGS Genetic DNA Test represents a significant advancement in molecular diagnostics for rare congenital eye conditions. This specialized test focuses on identifying mutations in the FOXL2 gene, which plays a crucial role in eyelid development and ovarian function. Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES) is a rare genetic disorder affecting approximately 1 in 50,000 individuals worldwide, making accurate genetic diagnosis essential for proper management and family planning.
What This Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology specifically targets the FOXL2 gene located on chromosome 3q23. The test comprehensively analyzes:
- Point mutations in the FOXL2 coding region
- Small insertions and deletions affecting gene function
- Regulatory region variations impacting gene expression
- Pathogenic variants associated with BPES types I and II
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with the following symptoms or clinical indications:
- Newborns or children with narrowed eye openings (blepharophimosis)
- Individuals with drooping upper eyelids (ptosis) affecting vision
- Patients with upward-folded skin near the inner eye corners (epicanthus inversus)
- Women experiencing premature ovarian failure with characteristic facial features
- Individuals with family history of BPES or related eye disorders
- Couples planning pregnancy with known family history of genetic eye conditions
Clinical Benefits of FOXL2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms BPES diagnosis and distinguishes between type I (with premature ovarian failure) and type II (without ovarian issues)
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Early Intervention: Facilitates timely surgical planning for eyelid correction
- Comprehensive Management: Guides multidisciplinary care involving ophthalmologists, geneticists, and endocrinologists
- Psychological Relief: Provides clarity and reduces diagnostic uncertainty for families
Understanding Your Test Results
Our genetic counselors provide detailed interpretation of your results:
- Positive Result: Indicates a pathogenic FOXL2 mutation confirming BPES diagnosis
- Negative Result: Suggests alternative genetic causes for the clinical presentation
- Variant of Uncertain Significance: Requires additional family studies for clarification
- Carrier Status: Important information for family members and future generations
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | FOXL2 Gene Blepharophimosis Epicanthus Inversus and Ptosis 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:
- Complete clinical history documentation
- Genetic counseling session with our specialists
- Family pedigree chart development
- Discussion of testing implications and potential outcomes
Nationwide Accessibility
GGC DNA maintains testing facilities across major US cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic eye conditions affect your family’s future. Our team of genetic specialists, ophthalmologists, and counselors are ready to provide comprehensive support throughout your testing journey. Early diagnosis can significantly improve quality of life and inform important health decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the FOXL2 Gene Test. Take control of your genetic health with confidence and precision.
