PDHA1 Gene Leigh syndrome, X-linked NGS Genetic Test
Short Name: PDHA1 NGS Test
Also known as: PDHA1-related Leigh syndrome NGS test, Pyruvate dehydrogenase E1-alpha subunit gene test, X-linked Leigh syndrome genetic test
PDHA1 Gene Leigh syndrome, X-linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for confirmation if required on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks from the date the sample is received by the laboratory.. 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
The purpose of this test is to detect pathogenic variants in the PDHA1 gene associated with X-linked Leigh syndrome. It helps confirm the clinical diagnosis, supports carrier testing in families, and provides information for genetic counseling and recurrence-risk assessment.
- Test Code
- 4191
- ICD Code
- G31.81
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks from the date the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger sequencing for confirmation if required
Sample Collection
No fasting is required. A genetic counseling session to draw a pedigree chart of family members affected with PDHA1 gene Leigh syndrome is recommended before this test.
Method: Venipuncture / Blood spot on FTA card / Extracted DNA submission
Laboratory Analysis
A blood sample will be collected in an EDTA tube. If FTA card is used, one drop of blood is applied. For extracted DNA, the sample should be provided in a sterile DNA tube.
Report Delivery
No special restrictions are required. Resume normal diet and activities.
Timeline: Reports are issued within 3 to 4 weeks from the date the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the PDHA1 gene associated with X-linked Leigh syndrome. It helps confirm the clinical diagnosis, supports carrier testing in families, and provides information for genetic counseling and recurrence-risk assessment.
How to Prepare
- Collect blood in an EDTA vacutainer for whole blood samples
- If FTA card is used, ensure the blood spot is completely dried before packaging
- Label the sample with patient name, date of birth, and collection date
- Complete the requisition form with clinical history and relevant family history
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Since PDHA1 Leigh syndrome is X-linked, genetic counseling is important to explain recurrence risk, carrier status, and implications for other family members. This test should always be interpreted with clinical, biochemical, and radiological findings."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Mislabeled or unlabeled sample
- Insufficient blood volume or DNA quantity
- Clotted or hemolyzed blood sample
- Sample leakage or improper packaging
Understanding Your Results
Pathogenic/Likely pathogenic variant detected
Action: Confirms the clinical diagnosis in a compatible context. Genetic counseling and family screening are recommended.
Variant of uncertain significance (VUS) detected
Action: Insufficient evidence to confirm or exclude causality. Family segregation studies and further evaluation may be helpful.
No pathogenic variant detected
Action: Does not exclude PDHA1-related Leigh syndrome or other mitochondrial disorders. Consider broader genetic testing.
Consult a pediatrician, neurologist, or geneticist if a child has developmental regression, unexplained seizures, weak muscle tone, feeding or breathing difficulties, abnormal eye movements, or a family history of X-linked Leigh syndrome.
Limitations
- ⚠NGS may not detect large intragenic deletions or duplications depending on the analysis performed
- ⚠Deep intronic variants, promoter variants, or regulatory region variants may not be evaluated
- ⚠Variants of uncertain significance (VUS) may be reported and require further family segregation studies
- ⚠A negative result does not exclude other genetic causes of Leigh syndrome; broader testing may be needed
Risks & Considerations
- ●Mild pain or bruising at the needle site
- ●Dizziness or fainting during blood collection
- ●Very low risk of infection
Interfering Factors
- ●Contamination of the sample during collection
- ●Low DNA quality or quantity
- ●Sample mix-up or incorrect labeling
- ●Mosaic variants below the detection limit of NGS
Compare With Similar Tests
| Test | PDHA1 Gene Leigh syndrome, X-linked NGS Genetic Test | ||
|---|---|---|---|
| Comparison | PDHA1 Gene Leigh syndrome, X-linked NGS Genetic Test |
Frequently Asked Questions
What is PDHA1 gene Leigh syndrome?
What is the cost of the PDHA1 gene Leigh syndrome NGS genetic test in India?
What sample is needed for this test?
Do I need to fast before providing a blood sample?
How long will it take to get the reports?
Does DNA Labs India provide raw data files along with the report?
Who should be tested for PDHA1 gene Leigh syndrome?
Can this test detect all genetic causes of Leigh syndrome?
Is genetic counseling required before the test?
What do the results mean if no variant is found?
Is this test covered by insurance or government schemes?
Can female carriers be identified by this test?
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