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FASTKD2 Gene Mitochondrial complex IV deficiency NGS Genetic Test

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FASTKD2 Gene Mitochondrial complex IV deficiency NGS Genetic Test

Short Name: FASTKD2 Mitochondrial Complex IV Test

Also known as: Cytochrome c Oxidase Deficiency, COX Deficiency

FASTKD2 Gene Mitochondrial complex IV 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) Genetic Test🏠 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

The purpose of this test is to detect pathogenic variants in the FASTKD2 gene that cause Mitochondrial Complex IV Deficiency, aiding in accurate diagnosis, management, and genetic counseling for patients and families.

Test Code
1720
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

Provide clinical history and undergo genetic counseling session to draw a family pedigree chart.

Method: Venipuncture or spot collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture in EDTA tube or one drop on FTA card.

Step 3

Report Delivery

Sample stored at ambient room temperature and shipped to laboratory for processing.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and NGS analysis in laboratory.
3
After the Test:Report generation and genetic counseling for result explanation.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the FASTKD2 gene that cause Mitochondrial Complex IV Deficiency, aiding in accurate diagnosis, management, and genetic counseling for patients and families.

How to Prepare

  • Use sterile technique for blood collection
  • Avoid hemolysis
  • Label samples correctly with patient details

Doctor's Notes

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

"This test is essential for diagnosing mitochondrial disorders, guiding treatment, and providing genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL for blood
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or spot collection

Sample Stability

Blood sample stable at room temperature for 24 hours
FTA card samples stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample volume
  • Incorrect container or labeling
  • Sample received after stability period

Understanding Your Results

Results are interpreted based on the presence or absence of pathogenic variants in the FASTKD2 gene, with genetic counseling recommended.
Negative: No pathogenic variants detected, reducing likelihood of FASTKD2-related deficiency
Positive: Pathogenic variant(s) identified, confirming diagnosis of Mitochondrial Complex IV Deficiency
Variant of Uncertain Significance (VUS): Further testing and clinical correlation needed
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of mitochondrial disorder appear, for genetic counseling, or if family history suggests risk.

Limitations

  • ⚠May not detect all possible mutations in FASTKD2 gene
  • ⚠Requires genetic counseling for result interpretation
  • ⚠Not a substitute for clinical evaluation

Risks & Considerations

  • ●Minimal physical risk from blood draw
  • ●Psychological impact of genetic results
  • ●Possibility of incidental findings

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample
  • ●Incorrect sample collection

Frequently Asked Questions

What is the FASTKD2 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test?
It is a next-generation sequencing test that analyzes the FASTKD2 gene to identify mutations causing Mitochondrial Complex IV Deficiency, a rare genetic disorder affecting energy production.
How much does the test cost?
The test costs INR 20000, with free home sample collection available in many cities across India.
What sample type is required?
Blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required; samples can be collected at ambient room temperature.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the symptoms of Mitochondrial Complex IV Deficiency?
Symptoms include developmental delays, muscle weakness, seizures, heart failure, liver dysfunction, and vision problems, varying in severity.
Who should consider this test?
Individuals with symptoms of mitochondrial disorders, a family history of such conditions, or those requiring genetic confirmation for diagnosis.
How is the test performed?
The test uses next-generation sequencing technology to analyze the FASTKD2 gene for pathogenic mutations.
Is home sample collection available?
Yes, free home collection is offered for online bookings in numerous cities across India.
What is the turnaround time for reports?
Reports are delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
Are there any risks associated with the test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact of results.
How should I prepare for the test?
Provide clinical history and undergo genetic counseling; no specific preparation is needed beyond sample collection guidelines.
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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