CEP290 Gene Senior-Loken Syndrome Type 6 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Senior-Loken Syndrome
The CEP290 Gene Senior-Loken Syndrome Type 6 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CEP290 gene, which is crucial for proper cellular function and ciliary development. Senior-Loken syndrome type 6 is a rare autosomal recessive disorder characterized by the combination of nephronophthisis (a progressive kidney disease) and retinal degeneration leading to vision impairment. This comprehensive genetic test utilizes advanced Next-Generation Sequencing technology to provide accurate and reliable results for patients and families affected by this complex condition.
What Does This Test Detect?
This sophisticated genetic test specifically targets and analyzes the CEP290 gene for pathogenic variants that cause Senior-Loken syndrome type 6. The test detects:
- Point mutations and small insertions/deletions in the CEP290 gene
- Pathogenic variants affecting ciliary function and development
- Genetic markers associated with nephronophthisis progression
- Mutations linked to retinal degeneration and vision loss
- Autosomal recessive inheritance patterns
Who Should Consider This Test?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Progressive kidney dysfunction or nephronophthisis symptoms
- Early-onset retinal degeneration or vision impairment
- Family history of Senior-Loken syndrome or related ciliopathies
- Developmental delays or neurological symptoms
- Multiple organ system involvement suggesting ciliary dysfunction
- Unexplained kidney failure in childhood or adolescence
- Progressive vision loss with associated renal abnormalities
Benefits of Genetic Testing
Undergoing the CEP290 Gene Senior-Loken Syndrome Type 6 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Precise identification of genetic mutations enables targeted treatment approaches
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Allows for proactive management of kidney and vision complications
- Personalized Care: Enables development of individualized treatment strategies
- Peace of Mind: Reduces diagnostic uncertainty and provides clear answers
- Research Contribution: Helps advance understanding of rare genetic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and medical specialists:
- Positive Result: Indicates the presence of pathogenic CEP290 mutations, confirming Senior-Loken syndrome type 6 diagnosis
- Negative Result: Suggests absence of detectable mutations in the CEP290 gene, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
All results include comprehensive genetic counseling to help you understand the implications and next steps for your healthcare journey.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, with convenient 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 you receive the highest quality care regardless of your location.
Book Your Genetic Test Today
Take the first step toward understanding your genetic health. Our experienced team is ready to guide you through the testing process with compassion and expertise. Contact us today to schedule your appointment and begin your journey to genetic clarity.
Call or WhatsApp: +1(267) 388-9828
Our comprehensive pre-test services include detailed clinical history assessment and genetic counseling sessions to create personalized pedigree charts, ensuring you receive the most accurate and meaningful genetic testing experience available.
