TSFM Gene Combined oxidative phosphorylation deficiency type 3 NGS Genetic Test
Short Name: TSFM Gene COXPD3 NGS Test
Also known as: COXPD3, TSFM-related oxidative phosphorylation deficiency
TSFM Gene Combined oxidative phosphorylation deficiency type 3 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the TSFM Gene COXPD3 NGS Genetic Test is to diagnose Combined Oxidative Phosphorylation Deficiency Type 3 by identifying pathogenic mutations in the TSFM gene. This aids in confirming clinical suspicion, guiding treatment decisions, and facilitating genetic counseling for affected families.
- Test Code
- 1945
- 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)
Sample Collection
No special preparation required. Provide clinical history and family pedigree.
Method: Venipuncture or FTA Card Spot
Laboratory Analysis
Blood sample collected via venipuncture or FTA card spot.
Report Delivery
Apply pressure to puncture site. Store samples as per instructions.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the TSFM Gene COXPD3 NGS Genetic Test is to diagnose Combined Oxidative Phosphorylation Deficiency Type 3 by identifying pathogenic mutations in the TSFM gene. This aids in confirming clinical suspicion, guiding treatment decisions, and facilitating genetic counseling for affected families.
How to Prepare
- Use sterile techniques
- Label samples correctly
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of COXPD3, aiding in genetic counseling and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Improperly labeled
Understanding Your Results
If experiencing symptoms such as developmental delays, muscle weakness, or seizures, or if family history of mitochondrial disorders.
Limitations
- ⚠May not detect all types of mutations
- ⚠Variant of uncertain significance (VUS) may require further testing
- ⚠Does not assess mitochondrial DNA
Risks & Considerations
- ●Minor bruising from blood draw
- ●Rare infection risk
Interfering Factors
- ●Sample hemolysis
- ●DNA degradation
- ●Contamination
Frequently Asked Questions
What is the TSFM Gene Combined Oxidative Phosphorylation Deficiency Type 3 NGS Genetic Test?
Why is this test recommended?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to receive results?
What do positive results indicate?
Can the test detect all mutations?
Is genetic counseling necessary before testing?
What is a Variant of Uncertain Significance (VUS)?
How accurate is the test?
What should I do after receiving results?
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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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