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DNA Labs India

RLBP1 Gene Bothnia Retinal Dystrophy NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RLBP1 Gene Bothnia Retinal Dystrophy NGS Genetic Test

Short Name: RLBP1 NGS

Also known as: RLBP1 Gene Sequencing, Bothnia Retinal Dystrophy Genetic Test, RLBP1 Mutation Analysis

RLBP1 Gene Bothnia Retinal Dystrophy 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 from the date the laboratory receives the sample.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 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

This test is used to detect disease-causing mutations in the RLBP1 gene, confirm a diagnosis of Bothnia retinal dystrophy, identify carriers, and guide reproductive and clinical management.

Test Code
3773
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 from the date the laboratory receives the sample.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. Clinical history and pedigree chart are recommended before testing. Genetic counseling session may be scheduled.

Method: Venipuncture or Finger-prick blood spot

Step 2

Laboratory Analysis

Blood sample collection takes about 5-10 minutes. For FTA card, a small finger-prick blood spot is collected.

Step 3

Report Delivery

Sample should be sent to the laboratory within the stability window. Keep the appointment details for tracking and report access.

Timeline: Reports are issued in 3 to 4 weeks from the date the laboratory receives the sample.

Patient Instructions

1
Before the Test:No fasting is required. Provide clinical history and relevant previous eye examinations. A genetic counseling session is recommended before testing.
2
During the Test:A small blood sample is collected by a qualified phlebotomist; FTA card sample collection is quick and non-invasive.
3
After the Test:The sample is transported to the lab. You can track the status and will receive a downloadable report plus raw data files.

About This Test

Who Should Get This Test

This test is used to detect disease-causing mutations in the RLBP1 gene, confirm a diagnosis of Bothnia retinal dystrophy, identify carriers, and guide reproductive and clinical management.

How to Prepare

  • Ensure the blood sample is taken in an EDTA vacutainer if blood is being collected.
  • For FTA card, apply one drop of blood to the card and allow it to dry.
  • Label the sample clearly with patient name, date of birth, and collection date.
  • Transport the sample to the lab within 48 hours at ambient or refrigerated temperature.

Doctor's Notes

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

"As an ophthalmologist specializing in inherited retinal diseases, I emphasize the importance of molecular confirmation in patients with early-onset night blindness and progressive visual field loss. Identifying RLBP1 mutations not only establishes the diagnosis of Bothnia retinal dystrophy but also informs prognosis, surveillance, and family screening. Accurate genetic testing is essential before considering future gene-based therapies or reproductive planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeBlood: 2-3 mL; FTA card: 1 drop; Extracted DNA: as per laboratory guidelines
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodVenipuncture or Finger-prick blood spot

Sample Stability

Whole blood (EDTA) at room temperature
Whole blood (EDTA) at 2-8°C
Extracted DNA at -20°C
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Sample without proper labeling or requisition
  • Insufficient DNA quantity or quality
  • Frozen whole blood (unprocessed)

Understanding Your Results

The RLBP1 NGS genetic test result should be interpreted by a clinical geneticist or ophthalmologist in the context of the patient's symptoms, family history, and retinal examination. Variants are classified according to the ACMG guidelines.
📊

Negative (no pathogenic RLBP1 variant detected)

RLBP1-mediated Bothnia retinal dystrophy is unlikely, but other retinal dystrophy genes should be considered.

📊

Heterozygous pathogenic variant

Patient is a carrier; if symptoms are present, other genetic causes should be evaluated and genetic counseling recommended.

📊

Homozygous or compound heterozygous pathogenic variants

Consistent with autosomal recessive Bothnia retinal dystrophy; clinical correlation recommended.

📊

Variant of uncertain significance (VUS)

Cannot be used for diagnosis; family segregation studies and further testing may be needed.

⚠️ When to Consult a Doctor:

Consult an ophthalmologist and clinical geneticist if you or your child has night blindness, progressive visual field constriction, or difficulty with dim-light vision, particularly with a family history of retinal dystrophy.

Limitations

  • ⚠This test is limited to RLBP1 gene and does not analyze other retinal dystrophy genes.
  • ⚠Negative results do not exclude mutations in non-coding regulatory regions or copy number variations not reliably detected by this NGS strategy.
  • ⚠Variant classification may change over time; variants of uncertain significance may require further family studies.

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site
  • ●Psychological stress related to genetic results
  • ●Possibility of finding variants of uncertain significance

Interfering Factors

  • ●Low DNA quality or quantity
  • ●Contaminated sample
  • ●Rare sequencing artifacts
  • ●Pathogenic variants in non-coding regions not covered by standard NGS may be missed

Compare With Similar Tests

TestRLBP1 Gene Bothnia Retinal Dystrophy NGS Genetic Test
ComparisonRLBP1 Gene Bothnia Retinal Dystrophy NGS Genetic Test

Frequently Asked Questions

What is the cost of RLBP1 gene Bothnia retinal dystrophy NGS genetic test?
The test costs INR 20,000 at DNA Labs India. The price includes home sample collection in selected cities and a detailed clinical report with raw data files (FASTQ and VCF).
What sample is required for this test?
Blood or extracted DNA or one drop of blood on FTA card is required. No special preparation such as fasting is needed.
How long does it take to get reports?
Reports are available within 3 to 4 weeks after the sample reaches the laboratory.
What is Bothnia retinal dystrophy?
Bothnia retinal dystrophy is a rare inherited retinal disorder caused by RLBP1 gene mutations. It leads to night blindness, peripheral vision loss, blurred vision, and abnormal color vision, usually beginning in childhood. It is inherited in an autosomal recessive pattern.
Why is NGS preferred for this test?
NGS provides accurate, comprehensive sequencing of the RLBP1 gene. It can detect point mutations and small insertions/deletions that cause the condition, making it a highly reliable method for diagnosis.
Will I receive raw data files?
Yes. DNA Labs India shares raw data, FASTQ, and VCF files along with the conclusive clinical report. This ensures transparency and allows independent bioinformatic review.
Can this test identify carriers?
Yes, the test can detect a single pathogenic RLBP1 variant, which indicates an autosomal recessive carrier state. Carrier identification is useful for reproductive risk assessment.
Is genetic counseling recommended before testing?
Yes. A genetic counseling session is recommended before testing to draw a family pedigree and discuss the implications of possible results. DNA Labs India advises this as part of the pre-test process.
Does this test detect other retinal dystrophy genes?
No, this test is specifically for the RLBP1 gene. If your doctor suspects a broader inherited retinal disease, a comprehensive retinal dystrophy NGS panel may be considered.
Does insurance cover the test?
Coverage depends on your insurance provider and policy. Government schemes like PMJAY and private plans may cover genetic tests in certain cases; it is best to check with the insurer.
What does a positive result mean?
A positive result means one or two pathogenic variants were found in the RLBP1 gene. If two variants are present, the diagnosis of Bothnia retinal dystrophy is confirmed. One variant may indicate carrier status. You should discuss results with a genetic counselor.
Can children be tested?
Yes, the test can be done for children if clinically indicated and with proper consent/assent. Early genetic diagnosis helps manage symptoms and guide 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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For Hospitals & Clinics

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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