NGS Sequencing Retinitis Pigmentosa Test
Comprehensive Genetic Testing for Inherited Retinal Disease
Retinitis Pigmentosa represents a group of inherited retinal disorders that progressively damage the light-sensitive cells in the retina, leading to vision impairment and potential blindness. Our NGS Sequencing Retinitis Pigmentosa Test utilizes cutting-edge next-generation sequencing technology to provide comprehensive genetic analysis for individuals and families affected by this condition.
What This Advanced Genetic Test Measures
This comprehensive genetic panel analyzes over 60 genes known to be associated with Retinitis Pigmentosa and related inherited retinal diseases. The test examines critical genetic markers including:
- RHO (Rhodopsin) – The most commonly mutated gene in autosomal dominant RP
- RPGR and RP2 – Key genes in X-linked Retinitis Pigmentosa
- USH2A and EYS – Associated with both non-syndromic and syndromic forms
- PRPF31, PRPF8, PRPF3, PRPF6 – Genes involved in pre-mRNA splicing
- PDE6A and PDE6B – Critical for phototransduction cascade
- RPE65 and LRAT – Essential for vitamin A metabolism in the retina
- CRB1 and RP1 – Structural proteins maintaining retinal integrity
Who Should Consider Genetic Testing?
This test is particularly valuable for individuals experiencing:
- Progressive night blindness (nyctalopia)
- Loss of peripheral vision (tunnel vision)
- Difficulty with dark adaptation
- Family history of inherited retinal diseases
- Unexplained vision loss in childhood or early adulthood
- Planning for family and concerned about genetic transmission
- Considering participation in clinical trials for retinal diseases
Significant Benefits of Genetic Testing
Undergoing genetic testing for Retinitis Pigmentosa provides numerous advantages:
- Accurate Diagnosis: Confirms clinical suspicions and provides definitive diagnosis
- Inheritance Pattern Identification: Determines autosomal dominant, autosomal recessive, or X-linked inheritance
- Prognostic Information: Helps predict disease progression and severity
- Family Planning Guidance: Informs reproductive decisions and genetic counseling
- Treatment Opportunities: Identifies eligibility for gene-specific therapies and clinical trials
- Personalized Management: Enables tailored surveillance and intervention strategies
- Psychological Relief: Reduces uncertainty and empowers informed decision-making
Understanding Your Test Results
Your genetic test report will provide detailed information about identified variants:
- Pathogenic Variants: Disease-causing mutations that confirm diagnosis
- Likely Pathogenic Variants: Strongly suspected disease-causing changes
- Variants of Uncertain Significance: Genetic changes with unclear clinical impact
- Benign Variants: Common genetic variations not associated with disease
Our genetic counselors will help interpret your results and discuss implications for you and your family members. Positive results can guide targeted management strategies, while negative results in symptomatic individuals may indicate the need for additional testing or consideration of non-genetic factors.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | NGS Sequencing Retinitis Pigmentosa Test |
| Discount Price | $500 USD |
| Regular Price | $796 USD |
| Turnaround Time | Sample Daily by 9 am; Report 45 Working Days |
| Sample Type | 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Pre-test Requirements | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory |
| Testing Methodology | Next-Generation Sequencing (NGS) with Sanger sequencing confirmation |
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving patients 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 network ensures that comprehensive genetic testing for Retinitis Pigmentosa is accessible to patients nationwide.
Take Control of Your Eye Health Today
Don’t let uncertainty about your vision condition prevent you from getting the answers you need. Early genetic diagnosis can significantly impact your treatment options and quality of life. Our team of genetic specialists and ophthalmologists are ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your NGS Sequencing Retinitis Pigmentosa Test and take the first step toward understanding your genetic profile.
With our current promotional pricing of $500 USD (regularly $796), there’s never been a better time to invest in your eye health and genetic understanding. Our dedicated patient coordinators are available to answer your questions and help you begin your genetic testing journey.
