SLC25A3 Gene Mitochondrial phosphate carrier deficiency NGS Genetic Test
Short Name: SLC25A3 Gene Test
Also known as: Mitochondrial Phosphate Carrier Deficiency Test, SLC25A3 Mutation Analysis, SLC25A3 Gene Sequencing
SLC25A3 Gene Mitochondrial phosphate carrier 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.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
To diagnose mitochondrial phosphate carrier deficiency by detecting pathogenic mutations in the SLC25A3 gene using next-generation sequencing technology.
- Test Code
- 4727
- 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 specific preparation required. Provide clinical history and genetic counseling session.
Method: Blood draw or cheek swab
Laboratory Analysis
Blood sample drawn from vein or cheek swab collected non-invasively.
Report Delivery
Sample sent to lab for analysis. Keep area clean if blood drawn.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose mitochondrial phosphate carrier deficiency by detecting pathogenic mutations in the SLC25A3 gene using next-generation sequencing technology.
How to Prepare
- Ensure proper identification
- Use sterile equipment
- Follow lab guidelines for sample handling
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic testing for SLC25A3 mutations is crucial for timely intervention and family counseling in suspected mitochondrial disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated sample
- Improper labeling
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of mitochondrial phosphate carrier deficiency
No pathogenic variant detected
Unlikely to have the disorder, but clinical correlation needed
Variant of uncertain significance
Further testing or family studies may be required
If symptoms persist or worsen, or if family history suggests genetic risk, consult a geneticist or neurologist.
Limitations
- ⚠May not detect all types of mutations
- ⚠Results require clinical correlation
Risks & Considerations
- ●Minimal risk from blood draw: bruising, infection
- ●No risk from cheek swab
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
Frequently Asked Questions
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