RDH11 Gene Retinal Dystrophy Juvenile Cataracts and Short Stature Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Pediatric Conditions
The RDH11 Gene Retinal Dystrophy Juvenile Cataracts and Short Stature Syndrome NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics. This specialized test targets mutations in the RDH11 gene, which plays a crucial role in retinal development and visual function. When this gene malfunctions, it can lead to a complex syndrome characterized by progressive vision loss, early-onset cataracts, and impaired growth patterns in children and adolescents.
What Does This Test Measure and Detect?
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the RDH11 gene for pathogenic variants. The test specifically identifies:
- Point mutations, deletions, and insertions in the RDH11 gene
- Autosomal recessive inheritance patterns
- Specific genetic variants associated with retinal degeneration
- Mutations linked to juvenile cataract formation
- Genetic markers for short stature and growth abnormalities
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals displaying the following symptoms or clinical presentations:
- Children with progressive vision loss or night blindness
- Patients diagnosed with juvenile cataracts before age 20
- Individuals with unexplained short stature or growth retardation
- Families with a history of inherited retinal dystrophies
- Siblings of affected individuals for carrier screening
- Patients with suspected dysmorphology syndromes
Key Benefits of RDH11 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out RDH11-related syndrome with high precision
- Early Intervention: Enables timely management of vision and growth concerns
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides ophthalmological and endocrinological treatment strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic RDH11 mutations, confirming diagnosis and guiding specialized care
- Negative Result: Suggests absence of known RDH11 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | RDH11 Gene Retinal Dystrophy Juvenile Cataracts and Short Stature Syndrome 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 |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Ophthalmological and growth assessment records
Nationwide Accessibility
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, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about your child’s health condition create unnecessary stress. Our RDH11 genetic test provides the answers families need to make informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic diagnostics without financial burden.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
