TUFM Gene Combined oxidative phosphorylation deficiency type 4 NGS Genetic Test
Short Name: TUFM Gene COXPD4 NGS Test
Also known as: COXPD4, TUFM-related mitochondrial disease
TUFM Gene Combined oxidative phosphorylation deficiency type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To detect pathogenic mutations in the TUFM gene that cause combined oxidative phosphorylation deficiency type 4, aiding in diagnosis, prognosis, and genetic counseling.
- Test Code
- 1942
- 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 Technology
Sample Collection
Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members.
Method: Phlebotomy
Laboratory Analysis
Standard blood draw procedure; alternatively, DNA sample or FTA card drop can be used.
Report Delivery
Sample is processed and analyzed using NGS technology; report is generated and delivered.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect pathogenic mutations in the TUFM gene that cause combined oxidative phosphorylation deficiency type 4, aiding in diagnosis, prognosis, and genetic counseling.
How to Prepare
- Ensure genetic counseling is completed
- Use appropriate sample type (blood, DNA, FTA card)
- Label samples correctly
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is essential for diagnosing mitochondrial disorders like COXPD4, enabling early intervention and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect sample labeling
Understanding Your Results
Positive
Pathogenic TUFM gene mutation(s) detected, confirming diagnosis. Refer for genetic counseling and management.
Negative
No pathogenic variants detected in the TUFM gene. Consider other genetic or clinical evaluations.
If symptoms such as muscle weakness, vision or hearing loss, or developmental delays are present, or if there is a family history of mitochondrial disorders.
Limitations
- ⚠May not detect all possible mutations in the TUFM gene
- ⚠Results require interpretation by a geneticist
- ⚠Does not rule out other genetic conditions
Risks & Considerations
- ●Minimal risks from blood draw: bruising, infection, or discomfort
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | TUFM Gene Combined oxidative phosphorylation deficiency type 4 NGS Genetic Test | Whole Exome Sequencing | Mitochondrial DNA Sequencing |
|---|---|---|---|
| Comparison | TUFM Gene Combined oxidative phosphorylation deficiency type 4 NGS Genetic Test |
Frequently Asked Questions
What is the TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4?
Why is this genetic test recommended?
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Can this test detect all mutations in the TUFM gene?
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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.
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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