SDHA Gene Leigh syndrome NGS Genetic Test
Short Name: SDHA Gene NGS Test
Also known as: SDHA-Related Leigh Syndrome Test, Succinate Dehydrogenase Subunit A Gene Sequencing, Leigh Syndrome Nuclear Gene Test (SDHA)
SDHA Gene Leigh syndrome 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 Clinical reports are generally delivered within 3 to 4 weeks from the time the sample reaches the laboratory.. 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 this NGS-based test is to detect clinically significant variants in the SDHA gene associated with Leigh syndrome and mitochondrial complex II deficiency, confirm the clinical diagnosis, and enable genetic counselling and recurrence-risk assessment.
- Test Code
- 4180
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Clinical reports are generally delivered within 3 to 4 weeks from the time the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A genetic counselling session is recommended before testing to obtain a detailed clinical history and draw a pedigree chart of affected family members. Please carry any previous medical records, MRI reports, or biochemical test results.
Method: Venipuncture or finger-prick blood spot on FTA card
Laboratory Analysis
A trained phlebotomist will collect a blood sample. If using FTA card, a single drop of blood is placed on the card and allowed to air-dry. The sample is labelled and sent to the laboratory for NGS analysis.
Report Delivery
There are no activity or dietary restrictions after sample collection. Mild soreness or bruising at the puncture site may occur but usually resolves quickly.
Timeline: Clinical reports are generally delivered within 3 to 4 weeks from the time the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS-based test is to detect clinically significant variants in the SDHA gene associated with Leigh syndrome and mitochondrial complex II deficiency, confirm the clinical diagnosis, and enable genetic counselling and recurrence-risk assessment.
How to Prepare
- Book the test online to avail free home sample collection.
- For FTA card collection, apply one drop of blood using the finger-prick device.
- Label the sample clearly with patient name, date of birth, and collection date.
- No fasting is required.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Targeted genetic testing for SDHA should be considered when Leigh syndrome is clinically suspected. A negative SDHA result does not exclude other mitochondrial causes, and interpretation by a clinical geneticist or neurologist experienced in mitochondrial disorders is essential."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample quantity
- Unlabelled or mislabelled sample
- Sample received in wrong transport medium
- Severely hemolyzed or clotted blood sample
Understanding Your Results
No pathogenic variant detected
Negative result. An SDHA genetic cause is unlikely, but Leigh syndrome may still be caused by variants in other mitochondrial or nuclear genes.
One heterozygous pathogenic variant in SDHA
In a recessively inherited condition, a single variant is usually not sufficient for diagnosis. Additional sequencing and parental testing may be needed to look for a second variant.
Two pathogenic or likely pathogenic variants in SDHA
Molecular diagnosis of SDHA-related Leigh syndrome is likely and is consistent with a recessive inheritance pattern.
Variant of uncertain significance
The clinical significance of the variant is unknown. Further family studies, segregation analysis, or functional studies may be required.
Consult a neurologist or clinical geneticist if you or your child has developmental delay, hypotonia, seizures, unexplained lactic acidosis, breathing difficulty, or MRI changes suggestive of Leigh syndrome.
Limitations
- ⚠This test analyzes only the SDHA nuclear gene. It does not analyze mitochondrial DNA or other nuclear genes associated with Leigh syndrome.
- ⚠Mitochondrial DNA heteroplasmy is not evaluated by this test.
- ⚠Large genomic rearrangements and deep intronic variants may be missed unless additional analysis is requested.
- ⚠A variant of uncertain significance may require additional family studies or functional evidence.
Risks & Considerations
- ●Minimal risk from blood collection
- ●Slight bruising at the puncture site
- ●Rare dizziness or lightheadedness during blood collection
Interfering Factors
- ●Contamination during sample collection, especially on FTA card
- ●Degraded or low-quality DNA
- ●Sample labelling errors
- ●Large deletions or duplications may not be detected by standard small-variant NGS analysis
Compare With Similar Tests
| Test | SDHA Gene Leigh syndrome NGS Genetic Test | |
|---|---|---|
| Comparison | SDHA Gene Leigh syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the SDHA Gene Leigh Syndrome NGS Genetic Test?
What sample is required for this test?
Is fasting required before the test?
How long will the report take?
What technology is used for this genetic test?
What is the SDHA gene?
Is home sample collection available?
Do I need genetic counselling before the test?
Can this NGS test detect all causes of Leigh syndrome?
Will I receive raw data files?
Is this test covered by insurance?
What does a 'variant of uncertain significance' mean?
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