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MFF Gene Mitochondrial encephalomyopathy NGS Genetic Test

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MFF Gene Mitochondrial encephalomyopathy NGS Genetic Test

Short Name: MFF NGS Test

Also known as: MFF Gene Mitochondrial Encephalomyopathy NGS Test, MFF Mutation Analysis, Mitochondrial Encephalomyopathy Genetic Test

MFF Gene Mitochondrial encephalomyopathy 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 Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Gene Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this NGS genetic test is to detect mutations in the MFF gene that cause mitochondrial encephalomyopathy. Identifying the genetic cause helps in confirming diagnosis, estimating recurrence risk, and guiding treatment and surveillance.

Test Code
4327
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. However, a pre-test genetic counseling session is recommended and is included in the test price. Please bring any relevant medical records, prior neuroimaging, or biochemical test results, and be prepared to provide a detailed family history.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist using venipuncture. For FTA card collection, a single drop of blood will be obtained via a simple fingerstick. The procedure is quick and minimally invasive.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be securely transported to the laboratory. Results will be available in 3-4 weeks and can be accessed online or via email.

Timeline: Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Discuss the purpose of the test and its implications with a genetic counselor. Provide a detailed family history including any maternal relatives affected with similar symptoms. Understand that results may have implications for other family members.
2
During the Test:A nurse or phlebotomist will collect 5 ml of blood from the arm. If using FTA card, a simple fingerpick is sufficient. The procedure takes approximately 10 minutes.
3
After the Test:You can resume normal activities. The sample is sent to the lab for analysis. Reports will be available in 3-4 weeks and will be communicated through the preferred channel.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect mutations in the MFF gene that cause mitochondrial encephalomyopathy. Identifying the genetic cause helps in confirming diagnosis, estimating recurrence risk, and guiding treatment and surveillance.

How to Prepare

  • Fasting is not required
  • Bring prior medical records and family history details
  • A valid government ID and consent form for genetic testing are required
  • If the patient is a minor, a parent or guardian must provide consent and accompany the child

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Mitochondrial disorders often follow maternal inheritance; genetic counseling is essential for family planning and risk assessment."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml whole blood or 2 drops on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Whole blood in EDTA tube
FTA card
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrectly labeled sample
  • Sample received more than 72 hours after collection at ambient temperature
  • FTA card that is wet, moldy, or contaminated

Understanding Your Results

Genetic testing for MFF gene mutations should be interpreted in the context of clinical symptoms and family history. A board-certified clinical geneticist reviews all results and provides a comprehensive report.
📊

Positive

Pathogenic variant in the MFF gene confirms the diagnosis of MFF-related mitochondrial encephalomyopathy. Consultation with a geneticist is advised for management and recurrence risk.

📊

Negative

No pathogenic variant identified in the MFF gene. Alternative genetic causes of mitochondrial encephalomyopathy should be considered.

📊

Variant of Uncertain Significance

A genetic variant was found but its clinical significance is unknown. Additional family studies and functional analyses may be needed.

⚠️ When to Consult a Doctor:

If you or your child experience progressive muscle weakness, unexplained seizures, developmental regression, or a family history of mitochondrial disease, consult a neurologist or clinical geneticist for evaluation and testing.

Risks & Considerations

  • Minimal discomfort at needle site
  • Slight bruising around the venipuncture spot
  • Dizziness or fainting in rare cases

Interfering Factors

  • Maternal DNA contamination in prenatal samples
  • Extremely poor DNA quality due to hemolysis or degradation
  • Presence of homologous pseudogenes or highly similar gene sequences
  • Rare variants of uncertain significance that may complicate interpretation

Compare With Similar Tests

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Frequently Asked Questions

What is the MFF gene mitochondrial encephalomyopathy NGS genetic test?
This test uses next-generation sequencing (NGS) to analyze the MFF gene for mutations that cause mitochondrial encephalomyopathy. It is a targeted genetic test that helps confirm a clinical diagnosis.
What is the cost of the MFF gene NGS genetic test in India?
The test cost is INR 20,000 at DNA Labs India. This includes home sample collection, genetic counseling, NGS testing, and a detailed clinical report along with raw data files.
What sample is needed for the MFF gene test?
Blood, extracted DNA, or one drop of blood on an FTA card is acceptable. Whole blood in an EDTA tube or FTA card samples are commonly collected.
How long does it take to get results?
The turnaround time is 3 to 4 weeks after the sample is received by the laboratory.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
Will I get raw data files like FASTQ and VCF?
Yes, DNA Labs India is the only lab that provides raw data (FASTQ, VCF) along with the conclusive clinical report for this test, ensuring complete transparency.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic mutation in the MFF gene, which is associated with mitochondrial encephalomyopathy. Genetic counseling is recommended for management and recurrence risk assessment.
Can this test be done on a child?
Yes, the test can be performed on children. Parental consent and accompaniment are required for minors.
Is genetic counseling included in the test cost?
Yes, a pre-test genetic counseling session is provided to draw a pedigree chart and discuss the implications of the test.
Can this test detect all types of mitochondrial encephalomyopathy?
No. This test specifically analyzes the MFF gene. Mitochondrial encephalomyopathy can also be caused by mutations in other nuclear genes or mitochondrial DNA. Consulting a geneticist may help choose a broader panel if needed.
Is home sample collection available for this test?
Yes, we offer free home sample collection for online bookings for this test across more than 100 cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, and others.
How should I prepare for the test?
Bring your medical history, family history, and any previous test results. A genetic counseling session will be scheduled. No other special preparation is needed.
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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Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

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