Nx Gen Sequencing: Retinitis Pigmentosa Test
Short Name: RP Gene Panel
Also known as: RP Genetic Test, Retinitis Pigmentosa Gene Panel, RP Next Generation Sequencing Test, Inherited Retinal Dystrophy Gene Panel
Nx Gen Sequencing: Retinitis Pigmentosa Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing on Whole Blood samples. Results in Results are typically available within 45 working days from the date of sample receipt at the laboratory. Samples should be submitted daily by 9:00 AM for processing. Report delivery is available through the online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the Nx Gen Sequencing: Retinitis Pigmentosa Test is to identify pathogenic or likely pathogenic genetic variants in 58 genes associated with Retinitis Pigmentosa using next-generation sequencing technology. This test enables definitive molecular diagnosis of RP, determines the specific genetic subtype and inheritance pattern, facilitates genetic counselling for affected individuals and their families, helps predict disease prognosis, and assesses eligibility for gene-specific therapeutic interventions and clinical trials. It is recommended for individuals presenting with clinical features of RP, those with a family history of inherited retinal dystrophy, and patients seeking to understand the genetic basis of their condition for family planning purposes.
- Test Code
- 1357
- CPT Code
- 81443
- ICD Code
- H35.52
- Price
- ₹20,000
- Sample Type
- Whole Blood
- Result Time
- Results are typically available within 45 working days from the date of sample receipt at the laboratory. Samples should be submitted daily by 9:00 AM for processing. Report delivery is available through the online portal, email, or WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing
Sample Collection
Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. No fasting is required. Inform the laboratory about any recent blood transfusions or ongoing anticoagulant therapy.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 10 mL of whole blood (minimum 5 mL) from a peripheral vein using standard venipuncture technique into 2 Lavender Top (EDTA) tubes. The procedure is non-invasive and typically takes less than 5 minutes.
Report Delivery
Apply gentle pressure on the venipuncture site with sterile cotton for 3-5 minutes. Mild bruising may occur and typically resolves within a few days. Samples are shipped refrigerated; do not freeze.
Timeline: Results are typically available within 45 working days from the date of sample receipt at the laboratory. Samples should be submitted daily by 9:00 AM for processing. Report delivery is available through the online portal, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Nx Gen Sequencing: Retinitis Pigmentosa Test is to identify pathogenic or likely pathogenic genetic variants in 58 genes associated with Retinitis Pigmentosa using next-generation sequencing technology. This test enables definitive molecular diagnosis of RP, determines the specific genetic subtype and inheritance pattern, facilitates genetic counselling for affected individuals and their families, helps predict disease prognosis, and assesses eligibility for gene-specific therapeutic interventions and clinical trials. It is recommended for individuals presenting with clinical features of RP, those with a family history of inherited retinal dystrophy, and patients seeking to understand the genetic basis of their condition for family planning purposes.
How to Prepare
- Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory before sample collection
- Collect 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes
- Ship sample refrigerated. DO NOT FREEZE
- Label tubes clearly with patient name, date of collection, and unique identifier
- Ensure sample reaches the laboratory within 72 hours of collection
- No fasting is required prior to sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Retinitis Pigmentosa is a genetically heterogeneous condition with over 80 causative genes identified. Genetic testing through this comprehensive NGS panel allows precise molecular diagnosis, helps determine inheritance pattern, enables accurate genetic counselling for affected families, and is increasingly important for eligibility assessment for emerging gene-specific therapies such as voretigene neparvovec for RPE65 mutations. Early genetic diagnosis empowers patients with information about prognosis and potential clinical trial eligibility."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received without the duly filled Whole Exome Sequencing Consent Form (Form 37)
- Sample collected in incorrect tube type (non-EDTA tubes)
- Haemolysed, clotted, or insufficient sample volume
- Sample frozen prior to DNA extraction
- Sample received at room temperature after 6 hours of collection
- Unlabelled or mislabelled samples
- Sample collected post-heparin administration without adequate washout period
Understanding Your Results
A well-established disease-causing variant has been identified in one or more RP-associated genes. This confirms the molecular diagnosis of Retinitis Pigmentosa and allows determination of the inheritance pattern. Genetic counselling and family screening are recommended. Eligibility for gene-specific therapies may be assessed.
A variant with strong evidence of disease association has been found. This is highly suggestive of a molecular diagnosis of RP. Clinical correlation and family segregation studies are recommended for confirmation. Genetic counselling is advised.
A genetic change has been identified, but current evidence is insufficient to classify it as pathogenic or benign. This result is non-diagnostic. Follow-up studies, family segregation analysis, and periodic re-evaluation as new evidence emerges are recommended.
The variant identified is unlikely to be the cause of the patient's RP. Clinical correlation is recommended, and further investigation with additional genetic testing or alternative diagnostic approaches may be considered.
No known pathogenic or likely pathogenic variants were identified in the 58 genes tested. This does not completely exclude a genetic cause of RP, as causative variants may exist in genes not covered by this panel or in non-coding regions. Consider whole exome or whole genome sequencing for further evaluation.
Consult a qualified ophthalmologist or retina specialist if you experience progressive night blindness, tunnel vision, difficulty adjusting to changes in lighting, loss of peripheral vision, or any unexplained visual changes. If you have a family history of Retinitis Pigmentosa or inherited retinal dystrophy, seek genetic counselling. After receiving test results, discuss findings with your referring ophthalmologist and a clinical geneticist to understand implications for treatment, prognosis, and family planning. Early diagnosis is critical for eligibility assessment for emerging gene therapies.
Limitations
- ⚠This panel does not cover all known RP-associated genes; novel or rare gene mutations may not be detected
- ⚠Copy number variations (CNVs) and large structural rearrangements may not be fully detected by this NGS panel
- ⚠Variants of uncertain significance (VUS) may be identified, which require further evaluation and may not provide a definitive diagnosis
- ⚠Negative results do not completely exclude a genetic cause of RP, as causative variants may lie in genes not covered by this panel or in non-coding regulatory regions
- ⚠Results should be interpreted in conjunction with clinical findings by a qualified ophthalmologist and geneticist
- ⚠This test does not measure disease severity or rate of progression
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site, which typically resolves within a few days
- ●Small risk of infection at the blood draw site, minimised by standard sterile technique
- ●Psychological impact of genetic test results, particularly if pathogenic variants are identified
- ●Risk of identifying variants of uncertain significance (VUS), which may cause anxiety without providing definitive answers
- ●Potential implications for insurance and family members – genetic counselling is recommended before and after testing
Interfering Factors
- ●Recent blood transfusion within the past 4 weeks may affect DNA quality and test results
- ●Degraded or insufficient DNA due to improper sample storage or handling
- ●Contamination during sample collection or transport
- ●Failure to submit the mandatory Whole Exome Sequencing Consent Form (Form 37)
- ●Heparinised blood samples may interfere with NGS library preparation
Compare With Similar Tests
| Test | Nx Gen Sequencing: Retinitis Pigmentosa Test | Electroretinogram (ERG) | Optical Coherence Tomography (OCT) | Single-Gene Sanger Sequencing | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | Nx Gen Sequencing: Retinitis Pigmentosa Test | ERG measures electrical activity of retinal cells and can detect functional impairment but does not identify the underlying genetic cause. The Nx Gen Sequencing RP test provides definitive molecular diagnosis. | OCT provides detailed retinal imaging to assess structural changes but cannot identify causative genes. It complements genetic testing for comprehensive RP evaluation. | Single-gene testing examines one gene at a time and is suitable when a specific gene mutation is suspected. The NGS panel tests 58 genes simultaneously, offering higher diagnostic yield for a genetically heterogeneous condition like RP. | WES analyses all protein-coding genes in the genome. While broader in scope, the targeted RP gene panel offers focused analysis of known RP genes with higher depth of coverage, faster turnaround, and lower cost. |
Frequently Asked Questions
What is Retinitis Pigmentosa?
What does the Nx Gen Sequencing: Retinitis Pigmentosa Test detect?
How is the test performed and what sample is required?
Is fasting required before this test?
How long does it take to get the results?
What is the cost of the Nx Gen Sequencing: Retinitis Pigmentosa Test?
Is home sample collection available for this test?
Can children undergo this genetic test?
What if no pathogenic variant is found in the test?
How accurate is this genetic test?
Can this test help determine eligibility for gene therapy?
What is the difference between this test and a routine eye examination?
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₹20,000Reference Laboratory Services
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