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

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

Short Name: POLG Gene MDS Type 4A NGS Test

Also known as: POLG-related mitochondrial disease, Mitochondrial DNA depletion syndrome 4A, Alpers syndrome associated with POLG

POLG Gene Mitochondrial DNA depletion syndrome type 4A 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 from sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 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 for definitive diagnosis of Mitochondrial DNA Depletion Syndrome Type 4A, guiding treatment, genetic counseling, and family planning.

Test Code
1733
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and family pedigree. Attend a genetic counseling session to understand test implications.

Method: Venipuncture for blood; FTA card for dried blood spot

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using FTA card for dried blood spot by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball. No special post-collection care is required for most patients.

Timeline: 3 to 4 weeks from sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Genetic counseling to discuss family history, test benefits, limitations, and implications. Draw a pedigree chart of affected family members.
2
During the Test:DNA is extracted from the sample, and the POLG gene is analyzed using Next-Generation Sequencing to identify mutations.
3
After the Test:Results are reviewed by a geneticist, followed by a counseling session to explain findings and next steps.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the POLG gene for definitive diagnosis of Mitochondrial DNA Depletion Syndrome Type 4A, guiding treatment, genetic counseling, and family planning.

How to Prepare

  • Fast for at least 4 hours if specified by physician
  • Bring identification and doctor's prescription
  • Wear loose clothing for easy access to veins
  • Inform staff about any bleeding disorders or medications

Doctor's Notes

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

"This genetic test is crucial for diagnosing POLG-related disorders, enabling early intervention and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture for blood; FTA card for dried blood spot

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient volume
  • Incorrect container or anticoagulant
  • Unlabeled or mislabeled samples
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the POLG gene. A positive result confirms diagnosis of MDS type 4A, while a negative result may require further testing based on clinical suspicion.
Positive result: Pathogenic variants detected, confirming POLG-related mitochondrial disease. Consult a geneticist for management and family testing.
Negative result: No pathogenic variants found, but persistent symptoms may warrant additional tests such as mitochondrial DNA sequencing.
Variant of uncertain significance (VUS): Variant identified but not known to be pathogenic. Family studies or functional analysis may be recommended.
⚠️ When to Consult a Doctor:

If you or your child shows symptoms like unexplained muscle weakness, developmental delays, seizures, liver issues, or if there is a family history of mitochondrial disorders, consult a healthcare professional immediately.

Limitations

  • ⚠May not detect all types of variants (e.g., large deletions or intronic mutations)
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Not a screening test for general population; indicated for symptomatic individuals or families

Risks & Considerations

  • ●Minimal risk from blood draw: possible bruising, soreness, or rare infection at the puncture site
  • ●No significant risks from the genetic analysis itself

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Insufficient sample volume
  • ●Use of incorrect anticoagulant

Compare With Similar Tests

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

Frequently Asked Questions

What is POLG Gene Mitochondrial DNA Depletion Syndrome Type 4A?
It is a rare genetic disorder caused by mutations in the POLG gene, leading to impaired mitochondrial function and symptoms like muscle weakness, seizures, and liver dysfunction.
Why is the POLG Gene NGS Genetic Test recommended?
It is recommended for individuals with symptoms of mitochondrial disorders or a family history, as it provides a definitive diagnosis for targeted treatment and genetic counseling.
What is the cost of the POLG Gene NGS Genetic Test?
The test costs INR 20,000 in India, with free home sample collection available in major cities.
How is the sample collected for this test?
A blood sample is collected via venipuncture, or a dried blood spot on an FTA card can be used, with home collection options available.
Is fasting required before the test?
No, fasting is not required for this genetic test unless specified by your physician.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks from sample receipt.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the POLG gene, confirming the diagnosis of MDS type 4A. Consult a geneticist for management.
What if the test result is negative?
A negative result means no pathogenic variants were detected, but persistent symptoms may require further evaluation, such as additional genetic tests.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
Is genetic counseling included with the test?
Yes, a genetic counseling session to draw a family pedigree and discuss implications is recommended and may be part of the service.
What are the risks of undergoing this test?
The risks are minimal and mainly related to blood draw, such as bruising or infection. The genetic analysis itself poses no direct risk.
How accurate is the NGS Genetic Test for POLG mutations?
NGS is highly accurate for detecting mutations in the POLG gene, but accuracy depends on sample quality and lab expertise. DNA Labs India ensures reliable results with advanced technology.
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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