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AIFM1 Gene Combined oxidative phosphorylation deficiency type 6 NGS Genetic Test

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AIFM1 Gene Combined oxidative phosphorylation deficiency type 6 NGS Genetic Test

AIFM1 Gene Combined oxidative phosphorylation deficiency type 6 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To identify mutations in the AIFM1 gene that cause Combined Oxidative Phosphorylation Deficiency Type 6, a rare mitochondrial disorder, aiding in accurate diagnosis and management.

Test Code
1947
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

Ensure patient has provided informed consent and relevant clinical history.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via standard venipuncture procedure.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor for pre-test counseling.
2
During the Test:Blood draw procedure performed by trained phlebotomist.
3
After the Test:Wait for results and follow up with healthcare provider.

About This Test

Who Should Get This Test

To identify mutations in the AIFM1 gene that cause Combined Oxidative Phosphorylation Deficiency Type 6, a rare mitochondrial disorder, aiding in accurate diagnosis and management.

How to Prepare

  • Fasting not required
  • Avoid strenuous activity before test
  • Inform about any medications

Doctor's Notes

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

"This genetic test is essential for early diagnosis and management of rare mitochondrial disorders, helping to guide treatment and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improper labeling

Understanding Your Results

Results will indicate the presence or absence of pathogenic mutations in the AIFM1 gene.
Normal result: No pathogenic variants detected
Abnormal result: Pathogenic mutation identified, indicating diagnosis
Consult genetic counselor for detailed interpretation
⚠️ When to Consult a Doctor:

If experiencing symptoms such as seizures, developmental delay, or muscle weakness, consult a genetic specialist.

Limitations

  • May not detect all genetic variants
  • Requires genetic counseling for interpretation
  • False negatives possible in some cases

Risks & Considerations

  • Minimal risk of bruising or infection at blood draw site

Interfering Factors

  • Sample contamination
  • Improper sample storage
  • Technical errors in sequencing

Frequently Asked Questions

What is the AIFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 6 NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to identify mutations in the AIFM1 gene, which cause a rare mitochondrial disorder affecting energy production in cells.
What are the symptoms of this disorder?
Symptoms include weakness, fatigue, developmental delay, seizures, intellectual disability, abnormal muscle tone, coordination difficulties, and vision problems, appearing from infancy to adulthood.
How is the test performed?
A blood sample is collected via venipuncture and analyzed using NGS technology to sequence the entire AIFM1 gene.
What is the cost of the test?
The test costs INR 20,000, which includes genetic counseling and result interpretation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
Who should consider this test?
Individuals exhibiting symptoms of mitochondrial disorders or with a family history of the condition should consider this test.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the AIFM1 gene, confirming the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 6.
Are there any risks associated with the test?
The test involves minimal risks, such as slight bruising or infection at the blood draw site.
How accurate is the NGS genetic test?
The test is highly accurate, with NGS technology detecting mutations even in atypical cases, but genetic counseling is recommended for interpretation.
What is included in the test cost?
The cost includes the genetic test, necessary genetic counseling, and interpretation of results.
How can I prepare for the test?
No fasting is required. Provide a detailed clinical history and consult with a genetic counselor for pre-test 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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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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