PDHX Gene Lacticacidemia due to PDX1 deficiency NGS Genetic Test
Short Name: PDHX Lacticacidemia NGS Test
Also known as: Lactic acidosis due to PDHX deficiency, PDHX gene mutation lacticacidemia, PDHX gene related lactic acidemia
PDHX Gene Lacticacidemia due to PDX1 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose lacticacidemia caused by PDHX gene deficiency through genetic analysis, enabling accurate identification of mutations for personalized treatment and genetic counseling.
- Test Code
- 2125
- 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
Consult with a genetic counselor for pedigree chart creation and clinical history review. No specific preparation required.
Method: Venipuncture
Laboratory Analysis
Standard venipuncture procedure for blood draw; alternatively, use FTA card for one-drop blood.
Report Delivery
Store sample at appropriate temperature and transport to lab for analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose lacticacidemia caused by PDHX gene deficiency through genetic analysis, enabling accurate identification of mutations for personalized treatment and genetic counseling.
How to Prepare
- Ensure proper labeling of sample with patient details
- Avoid eating or drinking before collection if not specified
- Use aseptic technique to prevent contamination
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is vital for diagnosing rare metabolic disorders like lacticacidemia, enabling early intervention and personalized treatment plans to improve patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated sample
- Insufficient sample volume
- Improperly labeled or stored samples
Understanding Your Results
Positive
Pathogenic variant detected in the PDHX gene, confirming diagnosis of lacticacidemia due to PDHX deficiency. Genetic counseling and treatment initiation recommended.
Negative
No pathogenic variants detected. Clinical correlation and additional testing may be needed if symptoms persist.
Variant of Uncertain Significance (VUS)
Genetic variant identified but clinical significance unknown. Follow-up testing and monitoring advised.
If you experience symptoms of lacticacidemia such as muscle weakness, fatigue, or seizures, or if you have a family history of metabolic disorders.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires expert genetic counseling for interpretation
- ⚠Limited to PDHX gene analysis only
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Psychological impact of genetic results
- ●Potential for genetic discrimination in rare cases
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | PDHX Gene Lacticacidemia due to PDX1 deficiency NGS Genetic Test | Metabolic Disorder NGS Panel | Lactate Level Blood Test |
|---|---|---|---|
| Comparison | PDHX Gene Lacticacidemia due to PDX1 deficiency NGS Genetic Test | Covers multiple genes including PDHX, but may be more expensive and broader in scope. | Measures lactic acid levels but does not identify genetic causes like PDHX deficiency. |
Frequently Asked Questions
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