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GFM1 Gene Combined oxidative phosphorylation deficiency type 1 NGS Genetic Test

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GFM1 Gene Combined oxidative phosphorylation deficiency type 1 NGS Genetic Test

GFM1 Gene Combined oxidative phosphorylation deficiency type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses 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.

Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to diagnose combined oxidative phosphorylation deficiency type 1 by identifying pathogenic variants in the GFM1 gene. It aids in confirming the diagnosis, guiding clinical management, and providing information for genetic counseling.

Test Code
1929
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
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 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

The purpose of this test is to diagnose combined oxidative phosphorylation deficiency type 1 by identifying pathogenic variants in the GFM1 gene. It aids in confirming the diagnosis, guiding clinical management, and providing information for genetic counseling.

Doctor's Notes

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

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 from the GFM1 Gene NGS Genetic Test are interpreted based on the presence or absence of pathogenic variants in the GFM1 gene.
⚠️ When to Consult a Doctor:

Consult a healthcare professional if you experience symptoms such as muscle weakness, developmental delays, or seizures, or if there is a family history of mitochondrial disorders.

Frequently Asked Questions

What is the GFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 1 NGS Genetic Test?
This test analyzes the GFM1 gene for mutations causing a rare mitochondrial disorder that affects energy production in cells.
What are the symptoms of this disorder?
Symptoms include muscle weakness, developmental delays, seizures, intellectual disability, abnormal eye movements, difficulty swallowing, respiratory problems, and hearing loss.
How is the disorder diagnosed?
Diagnosis involves genetic testing like this NGS test, along with electromyography and muscle biopsy.
What is the cost of the test in India?
The cost is INR 20,000, including home sample collection across India.
How long does it take to get the results?
Reports are typically delivered within 3 to 4 weeks.
What sample is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is home sample collection available?
Yes, free home sample collection is available for online bookings.
Who should consider getting this test?
Individuals with symptoms of the disorder or a family history of mitochondrial diseases should consider testing.
What does a positive test result mean?
A positive result indicates the presence of pathogenic variants in the GFM1 gene, confirming the diagnosis.
Are there any risks associated with the test?
The test involves a standard blood draw with minimal risks like bruising at the puncture site.
How accurate is the NGS genetic test?
NGS technology provides high accuracy for detecting genetic variants, but results should be interpreted by a healthcare professional.
Can insurance cover the cost of this test?
Coverage depends on the insurance scheme; it is not typically covered under government schemes like PMJAY or CGHS, but private insurance may vary.
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.

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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