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RRM2B Gene Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant NGS Genetic Test

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RRM2B Gene Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant NGS Genetic Test

Short Name: RRM2B NGS Test

Also known as: RRM2B-related Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5, PEOA5 NGS Genetic Test, RRM2B Gene Mitochondrial Deletion Syndrome Type 5 Test

RRM2B Gene Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Bioinformatics analysis and variant annotation on Blood / Extracted DNA / One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to identify disease-causing variants in the RRM2B gene that can cause progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant, and to provide molecular information for clinical management and family risk assessment.

Test Code
4492
CPT Code
N/A
ICD Code
N/A
Price
₹20,000
Sample Type
Blood / Extracted DNA / One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Bioinformatics analysis and variant annotation
Step 1

Sample Collection

No fasting is required. If possible, bring clinical records, previous muscle biopsy reports and family history details. A genetic counselling session is recommended before sample collection to draw a pedigree chart.

Method: Venepuncture or FTA card spot

Step 2

Laboratory Analysis

For a blood sample, a trained phlebotomist collects venous blood in an EDTA tube. For FTA card collection, one drop of blood is spotted onto the marked circles and air dried.

Step 3

Report Delivery

There are no restrictions after sample collection. The sample is transported to the laboratory at room temperature.

Timeline: Reports are delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting required. Complete genetic counselling and provide a detailed family history before sample collection.
2
During the Test:During the collection, a blood sample or FTA card spot is obtained by a trained phlebotomist; no sedation or anaesthesia is required.
3
After the Test:After collection, the sample is packaged and transported to the laboratory. No lifestyle restrictions are required.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify disease-causing variants in the RRM2B gene that can cause progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant, and to provide molecular information for clinical management and family risk assessment.

How to Prepare

  • Use EDTA tube for whole blood sample
  • FTA card should be air dried and placed in the protective pouch
  • Extracted DNA should be labelled with patient ID and collection date
  • Do not freeze FTA card sample

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic counseling before testing is essential to understand inheritance, family implications and result interpretation."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / One drop Blood on FTA Card
Sample VolumeNot specified; depends on sample type
ContainerEDTA tube / sterile DNA vial / FTA card
Collection MethodVenepuncture or FTA card spot

Sample Stability

Whole blood: stable at 2-8 degrees Celsius for up to 72 hours
FTA card: stable at room temperature in a dry pouch
Extracted DNA: stable at -20 degrees Celsius for long-term storage
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Improperly labelled sample container
  • FTA card with insufficient blood or contaminated sample
  • Sample received more than 7 days after collection for whole blood

Understanding Your Results

Results should always be interpreted in the context of clinical symptoms, family history, muscle biopsy findings and biochemical investigations. A clinical geneticist will provide the final interpretation.
Pathogenic or likely pathogenic variant in RRM2B confirms the molecular diagnosis in the appropriate clinical context.
A variant of uncertain significance does not confirm or exclude the condition and may require additional family studies or functional testing.
No pathogenic variant detected in RRM2B does not rule out mitochondrial disease caused by other nuclear or mitochondrial genes.
A heterozygous pathogenic variant is consistent with autosomal dominant inheritance of PEO type 5.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member have symptoms such as ptosis, ophthalmoplegia, proximal muscle weakness, or a family history of progressive external ophthalmoplegia, or if the test reports a pathogenic variant, likely pathogenic variant, or variant of uncertain significance.

Limitations

  • ⚠This test may not detect large deletions, deep intronic variants or large structural rearrangements.
  • ⚠A variant of uncertain significance does not confirm or exclude the diagnosis.
  • ⚠A negative result does not exclude all forms of mitochondrial disease.
  • ⚠Mitochondrial genome variants are not evaluated unless a mitochondrial panel is requested separately.

Risks & Considerations

  • ●Minimal risk of bruising or pain during venepuncture
  • ●FTA card collection is minimally invasive
  • ●No radiation or contrast exposure is involved in this genetic test

Interfering Factors

  • ●Contamination of sample with another person's DNA
  • ●Degraded or insufficient DNA
  • ●Sample mix-up or mislabelling
  • ●Large structural rearrangements may not be detected by standard NGS

Frequently Asked Questions

What is RRM2B gene-related progressive external ophthalmoplegia type 5?
It is a rare autosomal dominant genetic condition caused by pathogenic variants in the RRM2B gene. The gene is essential for mitochondrial DNA replication, and its impairment leads to progressive weakness of the eye muscles and possible limb muscle weakness.
What does the RRM2B NGS genetic test do?
It reads the coding and splice-site regions of the RRM2B gene using next-generation sequencing and identifies disease-causing variants such as single nucleotide changes and small insertions or deletions.
What is the cost of this test at DNA Labs India?
The test costs Rs 20000.0, which includes home sample collection in selected cities, clinical report, and access to raw data, FASTQ and VCF files.
Is fasting required before the test?
No, fasting is not necessary for this genetic test.
What types of samples are accepted?
Whole blood in an EDTA tube, extracted DNA, or one drop of blood applied to an FTA card are accepted for this test.
How long will the report take?
Reports are issued within 3 to 4 weeks after the laboratory receives the sample.
Who should consider this test?
People with ptosis, ophthalmoplegia, muscle weakness, family history of PEO, or inconclusive mitochondrial testing results may consider this test after genetic counseling.
Is the inheritance autosomal dominant?
Yes, this form is inherited in an autosomal dominant manner, so one altered copy of the RRM2B gene can cause the condition.
Can a negative result exclude the condition?
No. A negative result only rules out detectable mutations in RRM2B. Other nuclear genes or mitochondrial DNA deletions can cause similar phenotypes.
Why is genetic counseling important?
Counselors help interpret variants, discuss inheritance, assess family risk, and guide medical screening and reproductive options.
Will the lab give raw data files?
Yes, DNA Labs India provides the clinical report along with raw data, FASTQ and VCF files with this NGS genetic test.
Does insurance cover this genetic test?
Insurance coverage depends on the policy and indication. It is not routinely covered and should be checked with the individual insurer.
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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