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PRPH2 Gene Fundus Albipunctatus NGS Genetic Test

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PRPH2 Gene Fundus Albipunctatus NGS Genetic Test

Short Name: PRPH2 NGS Test

Also known as: Fundus Albipunctatus Genetic Test, PRPH2 Gene Mutation Analysis, Peripherin-2 Gene Sequencing

PRPH2 Gene Fundus Albipunctatus NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

Ophthalmology / NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to detect clinically significant variants in the PRPH2 gene that may cause fundus albipunctatus. It helps confirm the clinical diagnosis, guide long-term management, and provide information for genetic counselling and family risk assessment.

Test Code
3832
ICD Code
H35.5
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued in 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Patients can continue with their normal daily routine and regular meals before sample collection.

Method: Venous blood collection / dried blood spot on FTA card / extracted DNA submission

Step 2

Laboratory Analysis

A small volume of blood will be collected from a vein in the arm, or a blood spot may be collected on an FTA card depending on the sample type chosen.

Step 3

Report Delivery

After blood collection, light pressure is applied to the collection site. You can resume normal activities immediately.

Timeline: Reports are issued in 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting needed. Confirm your identity and booked test details with the sample collection team.
2
During the Test:A small blood sample is collected; the process takes around 5-10 minutes.
3
After the Test:You may go back to your routine. The laboratory will share the report within 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect clinically significant variants in the PRPH2 gene that may cause fundus albipunctatus. It helps confirm the clinical diagnosis, guide long-term management, and provide information for genetic counselling and family risk assessment.

How to Prepare

  • Please carry a valid government-issued photo ID
  • Confirm the exact test booked before sample collection
  • No need to fast or stop routine medications unless advised by your doctor
  • For FTA card collection, follow the specific protocol provided by the laboratory

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"From an ophthalmology perspective, genetic confirmation is valuable when a patient has characteristic white dots, night blindness and photoreceptor dysfunction. A confirmed PRPH2 variant can help the ophthalmologist plan follow-up, assess prognosis and alert family members about the need for screening."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeSample volume depends on sample type: blood, extracted DNA or FTA card spot as per laboratory requirements
ContainerEDTA vacutainer / DNA elution tube / FTA card
Collection MethodVenous blood collection / dried blood spot on FTA card / extracted DNA submission

Sample Stability

Whole Blood24-72 hours
Extracted DNALong-term
FTA Card Blood SpotLong-term
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Sample collected in a wrong anticoagulant tube
  • Improperly labelled or unlabelled sample
  • Sample received after prolonged delay at room temperature

Understanding Your Results

The PRPH2 gene test uses next-generation sequencing to evaluate the coding and splice-site regions of PRPH2. Variants are classified using standard medical genetics guidelines, and results should be interpreted in the context of clinical findings and family history.
📊

No PRPH2-related mutation was detected in this analysis. The clinician may consider testing other inherited retinal disease genes.

📊

The molecular diagnosis of PRPH2-related fundus albipunctatus is confirmed. Genetic counselling is recommended.

📊

A variant was found, but its clinical significance is unclear. Additional family testing and clinical correlation are recommended.

⚠️ When to Consult a Doctor:

Consult an ophthalmologist or clinical geneticist if you have night blindness, unexplained visual symptoms, white or yellowish retinal spots, or a family history of inherited retinal disease, or after receiving your genetic test result.

Limitations

  • ⚠This NGS test primarily detects single nucleotide variants and small insertions/deletions in the PRPH2 gene
  • ⚠Large structural rearrangements, repeat expansion disorders or mitochondrial variants may not be detected
  • ⚠A negative result does not exclude a genetic cause in other retinal dystrophy genes
  • ⚠A variant of uncertain significance may require additional family testing and clinical correlation

Risks & Considerations

  • ●Mild pain or bruising at the blood collection site
  • ●Dizziness or lightheadedness during phlebotomy
  • ●Rare risk of infection if the wound is not kept clean

Interfering Factors

  • ●Recent allogeneic blood transfusion may introduce donor DNA and affect the genetic analysis
  • ●Sample contamination during collection or processing may interfere with NGS results
  • ●Maternal cell contamination may be relevant in certain sample types
  • ●Poor DNA quantity or quality may reduce sequencing coverage

Compare With Similar Tests

TestPRPH2 Gene Fundus Albipunctatus NGS Genetic TestPRPH2 Gene NGS TestMulti-gene Inherited Retinal Dystrophy Panel
ComparisonPRPH2 Gene Fundus Albipunctatus NGS Genetic Test

Frequently Asked Questions

What is fundus albipunctatus?
Fundus albipunctatus is a rare inherited retinal disease characterized by multiple small white or yellow dots in the back of the eye and difficulty seeing in dim light. It is usually caused by changes in genes important for retinal function, including the PRPH2 gene.
What is the PRPH2 gene?
The PRPH2 gene gives instructions for making peripherin-2, a protein involved in maintaining the structure of light-sensing photoreceptor cells in the retina. Pathogenic variants in this gene can cause different retinal disorders.
Who should consider this test?
People who have night blindness, decreased visual acuity, colour vision abnormalities, peripheral vision loss, white or yellowish retinal spots on fundus examination, or a family history of PRPH2-related retinal disease can discuss this test with their doctor.
Do I need to fast before the test?
No, this is a genetic test and does not require fasting. You can eat and drink normally before giving the sample.
What sample is needed?
A small blood sample, extracted DNA, or one drop of blood on an FTA card can be used for the test.
What is NGS?
Next Generation Sequencing is a high-throughput genetic technology that can rapidly sequence many DNA fragments at once. In this test, it is used to analyse the PRPH2 gene.
What will the test report tell me?
The report will state whether a pathogenic or likely pathogenic variant was found, a variant of uncertain significance was detected, or no pathogenic variant was identified. It should be discussed with a doctor or genetic counsellor.
How long does the report take?
The report is available in 3 to 4 weeks after the laboratory receives your sample.
Why does DNA Labs India provide raw data files?
Providing the raw FASTQ and VCF files allows another qualified geneticist to reanalyse the data if needed and gives patients greater transparency about the testing process.
Is PRPH2 genetic testing covered by insurance?
Coverage varies from policy to policy. You should check with your insurance provider about genetic testing benefits under your plan.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India when the booking is made online.
What should I do after receiving a positive result?
Please consult a clinical geneticist or ophthalmologist for genetic counselling. They can help explain the result, discuss inheritance risks for family members, and plan appropriate monitoring.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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