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Retinal Degeneration Gene Panel
₹ 19400
Retinal Degeneration Gene Panel
₹ 19400 ₹ 19400

Retinal Degeneration Gene Panel

Sample Type 51+ booked in last 3 days
Precaution
Sample Type
Swab
Precaution
Fasting
Yes
Precaution
Report
Within 4 Weeks

Retinal Degeneration Gene Panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Retinal Degeneration Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To identify genetic mutations causing inherited retinal degenerative disorders and support diagnosis, prognosis, and family risk assessment

What is the Retinal Degeneration Gene Panel?

The Retinal Degeneration Gene Panel is a genetic blood test that helps identify inherited conditions affecting the retina, the light sensitive tissue at the back of your eye. These conditions can lead to progressive vision loss, night blindness, colour vision problems, or complete loss of sight over time.

This test analyses a wide range of genes linked to hereditary retinal disorders using advanced Next Generation Sequencing technology. It requires an EDTA blood sample and supports accurate diagnosis, prognosis assessment, and informed family counselling.

What Does the Retinal Degeneration Gene Panel Measure?

This genetic test evaluates disease causing changes in genes essential for retinal structure and visual signal processing:

  • Detection of pathogenic variants linked to inherited retinal degeneration
  • Identification of genetic causes of progressive vision loss
  • Differentiation of hereditary retinal diseases from acquired eye conditions
  • Support for prognosis evaluation and long term visual care planning
  • Guidance for genetic counselling, family screening, and prenatal evaluation

Retinal Degeneration Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Retinal Degeneration Gene Panel?

Doctors may recommend this test if you experience:

  • Gradual or progressive loss of vision
  • Difficulty seeing in low light or at night
  • Tunnel vision or narrowing of visual fields
  • Colour vision abnormalities
  • Early onset visual problems with a family history of eye disease

Who Should Get a Retinal Degeneration Gene Panel?

This test may be advised for:

  • Individuals with suspected inherited retinal disorders
  • Patients diagnosed with retinitis pigmentosa, cone rod dystrophy, or macular dystrophy
  • Children or adults with unexplained progressive vision loss
  • Individuals with a family history of hereditary eye diseases
  • Couples seeking genetic counselling for inherited vision disorders

Why is a Retinal Degeneration Gene Panel Done?

The test helps identify the genetic cause of retinal degeneration, enabling accurate diagnosis, appropriate monitoring, and informed decisions regarding treatment options and family planning.

Importance of the Retinal Degeneration Gene Panel

Early genetic diagnosis of retinal degeneration helps clarify disease type, expected progression, and inheritance pattern. This information supports timely visual rehabilitation, eligibility assessment for emerging therapies, and proactive planning for education, lifestyle, and assistive technologies.

Retinal Degeneration Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Retinal Degeneration Gene Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Retinal Degeneration Gene Panel, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
  2. Safe Home Sample Collection
    Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
  3. Sample Tracking Updates
    You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
  4. Accurate Laboratory Testing
    Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
  5. Quick and Easy Reports
    Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Retinal Degeneration Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Retinal Degeneration Gene Panel. This service reduces travel, ensures comfort, and maintains strict quality standards during sample handling.

How Long Does It Take to Get a Retinal Degeneration Gene Panel Report?

Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get Retinal Degeneration Gene Panel Results?

  1. You can view and download your reports through the Metropolis Healthcare website or mobile app.
    Reports are also shared via email or WhatsApp, and a physical copy can be collected from the Metropolis Lab if required.

Interpreting Retinal Degeneration Gene Panel Results

What Your Retinal Degeneration Gene Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
Retinal degeneration related genes No disease causing variant detected Genetic retinal degeneration affecting visual function Vision loss may be due to non genetic or untested causes

Understanding Abnormal Retinal Degeneration Gene Panel Results by Gene Group

Gene Group What a Pathogenic Variant May Indicate
ABCA4, RPE65, PRPH2 Macular dystrophies and retinal pigment disorders
RPGR, USH genes, CRB1 Retinitis pigmentosa and syndromic retinal degeneration
CNGA, CNGB, GNAT genes Cone rod dystrophies and photoreceptor dysfunction

How Should You Prepare for a Retinal Degeneration Gene Panel?

This genetic test requires minimal preparation. Please keep the following in mind:

  • No fasting required: You can eat and drink normally
  • Normal hydration: Maintain your usual fluid intake
  • Medication details: Inform your doctor about all medicines or supplements
  • Clinical history: Share eye examination reports and imaging findings
  • Consent forms: Ensure the test requisition form and genetic history details are completed

How Is a Retinal Degeneration Gene Panel Done? (Step-by-Step Procedure)

The test is performed using a simple blood collection process:

  • Preparation: A tourniquet is tied around your arm to make veins more visible
  • Cleaning: The puncture site is cleaned with antiseptic
  • Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer
  • Completion: The needle is removed, and a bandage is applied
  • Processing: The sample is analysed using Next Generation Sequencing to identify disease causing gene variants

Conditions That May Affect Retinal Degeneration Gene Panel Accuracy

Certain patient related factors may influence interpretation:

  • Recent blood transfusion may affect genetic analysis
  • Incomplete clinical or ophthalmic history can limit interpretation
  • Mosaic genetic variants may be difficult to detect
  • Variants of uncertain significance may require family studies

Diseases That a Retinal Degeneration Gene Panel Can Help Detect

  • Retinitis pigmentosa
  • Cone rod dystrophy
  • Leber congenital amaurosis
  • Stargardt disease
  • Usher syndrome
  • Other inherited retinal degenerative disorders

References

  1. Hartong D.T., Berson E.L., Dryja T.P. Retinitis pigmentosa. Lancet. 2006;368(9549):1795–1809. PMID: 17113430
  2. Daiger S.P., Sullivan L.S., Bowne S.J. Genes and mutations causing retinitis pigmentosa. Clinical Genetics. 2013;84(2):132–141. PMID: 23317038
  3. Stone E.M., Andorf J.L., Whitmore S.S., et al. Clinically focused molecular investigation of inherited retinal disease. Ophthalmology. 2017;124(5):635–646. PMID: 28162995
  4. Wright A.F., Chakarova C.F., Abd El Aziz M.M., Bhattacharya S.S. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nature Reviews Genetics. 2010;11(4):273–284. PMID: 20212493

Frequently asked questions

Find quick answers to the most common questions about health tests, bookings, and reports.

Regular exercise, a balanced diet, avoiding smoking, maintaining a healthy weight, and managing stress all help reduce heart disease risk.

Common signs include irritability, trouble sleeping, headaches, difficulty concentrating, and muscle tension.

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Ratings & Reviews

We're satisfying our customers every day since 1980.

Morning given the samples in Ayanavaram branch got the report by 12.30pm it's fast and efficient delivery by mail and want to tell about the staff they are very professional and friendly definitely I will recommend my friends and family to metropolis labs

Prabhu Gopalakrishnan. 5

The Home Service was excellent. Medical Technician took samples at 7:00am and returned at 9:30 after breakfast to take further samples. The results were sent by email at 6pm. The whole experience was excellent, professional and well organised. Will certainly recommend the home service for convenience

Chris Bessell 5

Excellent service - I was able to request services late at night (9pm) and the technician was at my door at 7:30am the next morning. The services were highly affordable and convenient. I live in the US and the US could learn a lot from Metropolis!!!

Sharmila Vaishnav. 5

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Choose precision On time, every time!

Precision
  • 98% on time collections with a 60 minutes promise
  • Real-time tracking of phlebotomist arrival and report generation
  • Fully digital report delivery—view from mobile or desktop instantly
  • Continuous monitoring of turnaround times to ensure accuracy and speed
  • Dedicated support team to resolve any delays or queries quickly

Why Metropolis Healthcare?

Metropolis has been present for over 40 years in the market.

Metropolis has a team of 200 senior pathologists and over 2000 technicians delivering diagnostic solutions in the areas of routine, semi specialty and super specialty domains like Oncology, Neurology, Gynaecology, Nephrology and many more.

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Metropolis Healthcare is a leading diagnostic service provider in India. We are a team of dedicated professionals committed to ensuring you and your family receive the most accurate and timely healthcare solutions. We believe in making health care accessible, affordable and evidence-based. Our expert panel are equipped with the latest technology and manned by a certified team of over 4000+ technicians.

In diagnostic services, we have more than three decades of experience servicing diverse stakeholders health advantage packages for men, women and seniors, genetic fitness & corporation in over 650+ tests like Oncology, Neurology, Gynaecology, Haematology, and many more. Our diagnostic services are located in leading doctors and clinics and serve over 15+ cities in India.

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