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POLG Gene Mitochondrial DNA depletion syndrome type 4B NGS Genetic Test

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POLG Gene Mitochondrial DNA depletion syndrome type 4B NGS Genetic Test

Short Name: POLG MTDPS Type 4B NGS Test

Also known as: POLG-related mitochondrial disease, Mitochondrial DNA depletion syndrome type 4B, Alpers syndrome type 4B

POLG Gene Mitochondrial DNA depletion syndrome type 4B 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 3 to 4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 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 identify pathogenic mutations in the POLG gene that cause mitochondrial DNA depletion syndrome type 4B, aiding in diagnosis, risk assessment, and management of associated neurological and systemic disorders.

Test Code
1736
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Ensure genetic counseling is arranged.

Method: Venipuncture or FTA card application

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card as per standard protocol.

Step 3

Report Delivery

Apply pressure to the puncture site; monitor for any adverse effects.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss implications and family history.
2
During the Test:Blood draw or sample collection, followed by NGS analysis in the lab.
3
After the Test:Results reviewed by a geneticist, with report sent to the healthcare provider.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the POLG gene that cause mitochondrial DNA depletion syndrome type 4B, aiding in diagnosis, risk assessment, and management of associated neurological and systemic disorders.

How to Prepare

  • Use sterile equipment
  • Label sample correctly
  • Transport at ambient temperature

Doctor's Notes

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

"This NGS test is essential for diagnosing POLG-related mitochondrial disorders, aiding in early intervention and personalized management for neurological and systemic symptoms."

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 MethodVenipuncture or FTA card application

Sample Stability

Room temperatureUp to 7 days
Sample Rejection Criteria:
  • Hemolyzed or contaminated samples
  • Insufficient volume
  • Incorrect labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic POLG variants. Consult a geneticist for comprehensive interpretation.
📊

Normal

No pathogenic variants detected; low risk for POLG-related disorders.

📊

Pathogenic variant detected

Mutation identified; high risk for mitochondrial DNA depletion syndrome type 4B, requiring clinical evaluation.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

If symptoms persist or worsen, or if genetic test results indicate pathogenic variants, consult a neurologist or geneticist immediately.

Limitations

  • ⚠May not detect all rare variants or structural changes
  • ⚠Requires clinical correlation for interpretation
  • ⚠Limited to POLG gene analysis only

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible anxiety related to results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage

Compare With Similar Tests

TestPOLG Gene Mitochondrial DNA depletion syndrome type 4B NGS Genetic Test
ComparisonPOLG Gene Mitochondrial DNA depletion syndrome type 4B NGS Genetic Test

Frequently Asked Questions

What is POLG Gene Mitochondrial DNA Depletion Syndrome Type 4B?
It is a rare genetic disorder caused by mutations in the POLG gene, leading to reduced mitochondrial DNA and affecting energy production in cells, often causing neurological and multisystem symptoms.
Who should consider this genetic test?
Individuals with a family history of mitochondrial disorders, unexplained neurological symptoms like seizures or muscle weakness, or those with developmental delays should consider this test.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood sample for mutations in the POLG gene, providing detailed genetic insights.
What is the cost of the POLG Gene NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, including home sample collection across India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection, and are delivered via online portal, email, or WhatsApp.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test when booked online, covering major cities in India.
What are the common symptoms of this disorder?
Symptoms include seizures, muscle weakness, liver disease, developmental delays, vision problems, and various neurological issues.
How is the disorder diagnosed besides genetic testing?
Diagnosis involves clinical exams, family history review, and other tests like MRI or biochemical assays, but genetic testing is definitive.
What treatment options are available after diagnosis?
Treatment focuses on symptom management, such as anti-seizure medications, physical therapy, and supportive care, guided by a multidisciplinary team.
Is the test covered by insurance or government schemes?
Coverage varies; it is not typically covered by schemes like PMJAY or CGHS, but private insurance may depend on the policy. Check with your provider.
What do the test results mean?
Results indicate if pathogenic POLG variants are detected. A positive result confirms genetic risk, while a negative result reduces likelihood, but clinical correlation is essential.
How should I prepare for the test?
No special preparation is needed, but genetic counseling is recommended before testing to understand implications and provide accurate family history.
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

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.

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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.

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