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MGME1 Gene Mitochondrial DNA depletion syndrome type 11 NGS Genetic Test

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MGME1 Gene Mitochondrial DNA depletion syndrome type 11 NGS Genetic Test

Short Name: MGME1 MDDS Type 11 NGS Test

Also known as: MDDS Type 11, MGME1-related mitochondrial DNA depletion syndrome, Mitochondrial DNA Depletion Syndrome 11

MGME1 Gene Mitochondrial DNA depletion syndrome type 11 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 TestAll 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 mutations in the MGME1 gene for definitive diagnosis of Mitochondrial DNA Depletion Syndrome Type 11, enabling early medical intervention, carrier detection, and family planning counseling.

Test Code
1730
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 affected family members are required. No fasting is needed.

Method: Blood draw

Step 2

Laboratory Analysis

A blood sample is drawn from a vein, or one drop of blood on an FTA card is collected. Collection is done by trained phlebotomists at home or in-clinic.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities immediately. Samples are transported to the lab under stable conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session, collection of clinical and family history, no special preparation required.
2
During the Test:Blood sample collection via venipuncture or FTA card, analysis using NGS technology.
3
After the Test:Results available in 3-4 weeks, followed by genetic counseling for interpretation.

About This Test

Who Should Get This Test

To identify mutations in the MGME1 gene for definitive diagnosis of Mitochondrial DNA Depletion Syndrome Type 11, enabling early medical intervention, carrier detection, and family planning counseling.

How to Prepare

  • Provide accurate clinical history and family details
  • Ensure proper identification of the sample
  • Follow aseptic techniques during blood draw
  • Label the sample correctly with patient information

Doctor's Notes

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

"This NGS test is essential for definitive diagnosis of MDDS type 11, aiding in early intervention and family planning counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA card samples stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples without required clinical documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the MGME1 gene. A positive result confirms MDDS Type 11, while a negative result may require further testing if clinical suspicion remains high.
Pathogenic variant detected: Confirms diagnosis of MDDS Type 11
No pathogenic variant detected: Reduces likelihood but does not rule out MDDS Type 11
Variant of uncertain significance: Requires additional family studies and clinical evaluation
Consult a genetic counselor for detailed explanation and family implications
⚠️ When to Consult a Doctor:

Consult a healthcare provider if symptoms such as muscle weakness, developmental delays, or seizures persist, or if family history suggests mitochondrial disorders. Post-test, seek genetic counseling for result interpretation and management planning.

Limitations

  • ⚠May not detect all types of MGME1 gene mutations
  • ⚠Results require clinical correlation and genetic counseling
  • ⚠Cannot assess mitochondrial DNA copy number directly

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain or bruising
  • ●No significant health risks associated with the test itself

Interfering Factors

  • ●Poor sample quality or insufficient DNA quantity
  • ●Contamination during sample collection or processing
  • ●Recent blood transfusions may affect DNA analysis

Frequently Asked Questions

What is the MGME1 Gene Mitochondrial DNA Depletion Syndrome Type 11 NGS Genetic Test?
It is a diagnostic test using next-generation sequencing to detect mutations in the MGME1 gene, causing MDDS Type 11, a rare mitochondrial disorder.
What are the symptoms of Mitochondrial DNA Depletion Syndrome Type 11?
Common symptoms include progressive muscle weakness, developmental delays, intellectual disability, seizures, visual impairment, and hearing loss.
How is the test performed?
The test is performed on a blood sample or extracted DNA using NGS technology to analyze the MGME1 gene for mutations.
What is the cost of this test?
The cost at DNA Labs India is INR 20,000, which includes testing, analysis, interpretation, and genetic counseling.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India, including major cities like Mumbai, Delhi, Bangalore, and more.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted?
Accepted sample types include blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for this test?
No, fasting is not required for the MGME1 Gene NGS Genetic Test.
Who should consider this test?
Individuals with symptoms of MDDS, family history of the disorder, or those seeking carrier testing for family planning.
What does a positive result mean?
A positive result confirms a diagnosis of Mitochondrial DNA Depletion Syndrome Type 11 due to MGME1 gene mutations.
Can the test detect all mutations?
While NGS is highly accurate, it may not detect all types of mutations, and results should be correlated with clinical findings.
Is genetic counseling provided?
Yes, DNA Labs India offers genetic counseling sessions to discuss test results, implications, and family planning.
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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✓ 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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