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MPV17 Gene Mitochondrial DNA depletion syndrome type 6 NGS Genetic Test

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MPV17 Gene Mitochondrial DNA depletion syndrome type 6 NGS Genetic Test

Short Name: MPV17 MDS Type 6 Genetic Test

Also known as: Mitochondrial DNA Depletion Syndrome Type 6, MPV17 MDS Type 6

MPV17 Gene Mitochondrial DNA depletion syndrome type 6 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.

NGS 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 detect mutations in the MPV17 gene for the diagnosis of Mitochondrial DNA Depletion Syndrome Type 6, aiding in early identification and management of this rare genetic disorder.

Test Code
1737
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

Provide detailed clinical history and family history. Genetic counseling session is recommended to draw a pedigree chart.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

Sample collected via blood draw or saliva by a trained professional. Ensure proper labeling and handling.

Step 3

Report Delivery

Sample transported to the laboratory under ambient conditions. Results are processed and reported within 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a healthcare provider and genetic counselor to discuss the need for testing, implications, and family history.
2
During the Test:Sample collection as per instructions, typically a blood draw or saliva sample.
3
After the Test:Await results in 3-4 weeks. Follow up with a healthcare provider to discuss findings and next steps.

About This Test

Who Should Get This Test

To detect mutations in the MPV17 gene for the diagnosis of Mitochondrial DNA Depletion Syndrome Type 6, aiding in early identification and management of this rare genetic disorder.

How to Prepare

  • Fasting is not required
  • Avoid contamination of the sample
  • Label the sample with patient details accurately

Doctor's Notes

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

"Genetic testing is crucial for early diagnosis and management of mitochondrial disorders. Consultation with a genetic counselor is recommended for families with a history of such conditions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerSterile tube or FTA card
Collection MethodBlood draw or saliva collection

Sample Stability

Blood: stable at room temperature for up to 24 hours
FTA card: stable for extended periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Genetic test results indicate the presence or absence of pathogenic mutations in the MPV17 gene, which is associated with Mitochondrial DNA Depletion Syndrome Type 6.
📊

Pathogenic mutation detected, consistent with diagnosis of MPV17 MDS Type 6. Clinical correlation and genetic counseling recommended.

Result type: Positive

📊

No pathogenic mutation detected. However, clinical symptoms may still warrant further evaluation.

Result type: Negative

📊

A genetic variant was found but its clinical significance is unknown. Additional testing or family studies may be needed.

Result type: Variant of Uncertain Significance

⚠️ When to Consult a Doctor:

If symptoms of mitochondrial disorder are present, such as developmental delays, seizures, or liver dysfunction, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Results require clinical correlation
  • ⚠Variant of uncertain significance may require further testing

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising or infection
  • ●Emotional impact of test results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolysis in blood samples

Frequently Asked Questions

What is MPV17 Gene Mitochondrial DNA Depletion Syndrome Type 6?
It is a rare genetic disorder caused by mutations in the MPV17 gene, leading to reduced mitochondrial DNA and impaired cellular energy production, resulting in various symptoms.
What are the symptoms of MPV17 MDS Type 6?
Common symptoms include developmental delays, seizures, muscle weakness, respiratory problems, liver dysfunction, and failure to thrive, often appearing in infancy or early childhood.
How is MPV17 MDS Type 6 diagnosed?
Diagnosis is typically made through genetic testing, such as NGS, which detects mutations in the MPV17 gene. Additional tests like blood tests and biopsies may be used for confirmation.
What does NGS Genetic Testing involve?
Next Generation Sequencing (NGS) is a advanced genetic test that sequences DNA to identify mutations in genes like MPV17. It requires a blood or saliva sample and provides detailed analysis.
What is the cost of the MPV17 NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, which includes genetic counseling and a detailed report of results.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India, including major cities like Mumbai, Delhi, Bangalore, and more.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive genetic test result indicate?
A positive result indicates the presence of a pathogenic mutation in the MPV17 gene, confirming diagnosis of Mitochondrial DNA Depletion Syndrome Type 6.
Can children undergo this genetic test?
Yes, the test is suitable for all ages, including children, as symptoms often appear in infancy or early childhood.
Is genetic counseling included in the test cost?
Yes, the test cost includes a genetic counseling session to discuss results, implications, and family history.
What should I do if there is a family history of the disorder?
If there is a family history, consider genetic testing for early diagnosis and consult with a healthcare provider or genetic counselor for guidance.
How accurate is the NGS Genetic Test for MPV17 mutations?
NGS is highly accurate for detecting mutations, but results should be correlated with clinical findings. DNA Labs India ensures quality with NABL accreditation and ISO certification.
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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