Skip to main content
DNA Labs India

RRM2B Gene Mitochondrial DNA depletion syndrome 8B, MNGIE type NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RRM2B Gene Mitochondrial DNA depletion syndrome 8B, MNGIE type NGS Genetic Test

Short Name: RRM2B Gene NGS Test

Also known as: Mitochondrial DNA depletion syndrome 8B, MNGIE type

RRM2B Gene Mitochondrial DNA depletion syndrome 8B, MNGIE type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

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

To diagnose RRM2B gene mutations causing mitochondrial DNA depletion syndrome 8B, MNGIE type, enabling early intervention and genetic counseling.

Test Code
1731
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Clinical history of patient and a genetic counseling session to draw a pedigree chart of family members affected with the disease.

Method: Phlebotomy or FTA card collection

Step 2

Laboratory Analysis

Standard blood draw from a vein or collection of a blood drop on an FTA card by a trained professional.

Step 3

Report Delivery

Sample is processed in the lab for DNA extraction and NGS analysis. Results are reviewed and compiled into a clinical report.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and medical history review to assess the need for testing.
2
During the Test:Sample collection via blood draw or FTA card, processed in the lab for NGS analysis.
3
After the Test:Results are interpreted by geneticists, and a report is generated for the patient and physician.

About This Test

Who Should Get This Test

To diagnose RRM2B gene mutations causing mitochondrial DNA depletion syndrome 8B, MNGIE type, enabling early intervention and genetic counseling.

How to Prepare

  • Follow any specific instructions from the healthcare provider
  • Ensure proper labeling of the sample
  • Avoid eating or drinking if specified, though no fasting is required

Doctor's Notes

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

"This NGS genetic test is essential for early and accurate diagnosis of RRM2B-related mitochondrial disorders, aiding in timely management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodPhlebotomy or FTA card collection

Sample Stability

Blood samples are stable at room temperature for up to 24 hours
FTA card samples can be stored at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results from the RRM2B Gene NGS Genetic Test indicate whether pathogenic mutations are present in the RRM2B gene, which are associated with mitochondrial DNA depletion syndrome 8B, MNGIE type.
📊

No pathogenic variants detected

Low likelihood of RRM2B-related disorder, but clinical correlation is advised.

📊

Pathogenic or likely pathogenic variant detected

Confirms diagnosis of RRM2B-related mitochondrial disorder; genetic counseling recommended.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed; consult a geneticist.

⚠️ When to Consult a Doctor:

If you experience symptoms such as muscle weakness, swallowing difficulties, vision or hearing loss, or have a family history of mitochondrial disorders, consult a healthcare provider for evaluation and possible testing.

Limitations

  • ⚠May not detect all possible mutations or structural variants
  • ⚠Requires comprehensive genetic counseling
  • ⚠Results may have implications for family members

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results
  • ●Privacy concerns regarding genetic data

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestRRM2B Gene Mitochondrial DNA depletion syndrome 8B, MNGIE type NGS Genetic Test
ComparisonRRM2B Gene Mitochondrial DNA depletion syndrome 8B, MNGIE type NGS Genetic Test

Frequently Asked Questions

What is RRM2B Gene Mitochondrial DNA Depletion Syndrome 8B, MNGIE Type?
It is a rare genetic disorder caused by mutations in the RRM2B gene, leading to reduced mitochondrial DNA and affecting multiple organ systems.
What are the common symptoms of this disorder?
Symptoms include progressive muscle weakness, difficulty swallowing, digestive problems, vision or hearing loss, and developmental delays.
How is the diagnosis made?
Diagnosis involves a combination of physical exams, medical history, and genetic testing, specifically the RRM2B Gene NGS Genetic Test.
What is the cost of the NGS Genetic Test?
The test costs INR 20000 at DNA Labs India.
What sample type is required for the test?
Blood, extracted DNA, or a blood drop on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this test.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the RRM2B gene, confirming the disorder, and genetic counseling is recommended.
Can this test be used for carrier testing?
Yes, the test can identify carriers of RRM2B gene mutations.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising; genetic results may have psychological implications.
What should I do if I suspect I have this condition?
Seek medical attention immediately for evaluation and discuss genetic testing with a healthcare provider.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

Reference Laboratory Services

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.