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MPC1 Gene Mitochondrial pyruvate carrier deficiency NGS Genetic Test

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MPC1 Gene Mitochondrial pyruvate carrier deficiency NGS Genetic Test

MPC1 Gene Mitochondrial pyruvate carrier deficiency 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)🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose mitochondrial pyruvate carrier deficiency by identifying mutations in the MPC1 gene using next-generation sequencing technology.

Test Code
4728
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

A certified phlebotomist visits your home or you visit our nearest center. The process takes under 5 minutes.

Step 2

Laboratory Analysis

Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 weeks

About This Test

Who Should Get This Test

To diagnose mitochondrial pyruvate carrier deficiency by identifying mutations in the MPC1 gene using next-generation sequencing technology.

How to Prepare

  • Collect blood sample in appropriate tube.
  • Ensure proper labeling and handling.
  • For FTA card, follow specific instructions for blood drop.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MPC1 gene.
📊

Positive

Pathogenic variant detected, confirming diagnosis of mitochondrial pyruvate carrier deficiency.

📊

Negative

No pathogenic variants detected; clinical correlation recommended.

📊

Variant of uncertain significance

Further testing or clinical evaluation may be needed.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or metabolic disorder expert if symptoms persist or for family planning advice.

Risks & Considerations

  • Minimal physical risk from blood draw.
  • Potential psychological impact of results.
  • Incidental findings may require further evaluation.

Frequently Asked Questions

What is the MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the MPC1 gene, which causes mitochondrial pyruvate carrier deficiency.
What are the symptoms of mitochondrial pyruvate carrier deficiency?
Symptoms include developmental delay, intellectual disability, seizures, movement disorders, and lactic acidosis.
How is the test performed?
The test is performed on a blood sample or extracted DNA using NGS technology.
What is the cost of the test?
The cost is INR 20000.0, with home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What does a positive result mean?
A positive result indicates a pathogenic variant in the MPC1 gene, confirming the diagnosis.
What are the risks of the test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact of results.
Who should consider this test?
Individuals with symptoms of mitochondrial disorders or a family history of the condition.
How accurate is the test?
The test is highly accurate for detecting mutations in the MPC1 gene using NGS technology.
Can the test be used for prenatal diagnosis?
Consult a genetic counselor for prenatal testing options, as this test is typically for postnatal diagnosis.
What should I do after receiving the results?
Discuss results with a healthcare provider for appropriate management and genetic counseling.
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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LIMS Integration

Your Data Privacy

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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