SDHA Gene Mitochondrial respiratory chain complex II deficiency NGS Genetic Test
Short Name: SDHA NGS Test
Also known as: SDHA Gene Mutation Analysis, Mitochondrial Complex II Deficiency NGS, SDHA Sequencing Test
SDHA Gene Mitochondrial respiratory chain complex II deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or FTA Card Blood samples. Results in Reports will be available within 3 to 4 weeks after 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
To identify pathogenic variants in the SDHA gene associated with mitochondrial respiratory chain complex II deficiency, and to support clinical diagnosis, management, and genetic counseling.
- Test Code
- 4330
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or FTA Card Blood
- Result Time
- Reports will be available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
A detailed clinical history of the patient is required. A genetic counselling session to draw a pedigree chart of family members affected with SDHA Gene Mitochondrial Respiratory Chain Complex II Deficiency is recommended. Informed consent must be obtained.
Method: Peripheral blood draw or FTA card dried blood spot
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using venipuncture, or a dried blood spot is prepared on an FTA card.
Report Delivery
No specific precautions are needed after sample collection. Patients may resume normal activities immediately.
Timeline: Reports will be available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic variants in the SDHA gene associated with mitochondrial respiratory chain complex II deficiency, and to support clinical diagnosis, management, and genetic counseling.
How to Prepare
- Blood sample in EDTA tube is stable for 24-48 hours at 2-8°C.
- FTA card samples are stable at room temperature for several weeks.
- All samples must be labeled correctly with patient identification.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling is essential for families affected by mitochondrial disorders. This test provides clarity for diagnosis and recurrence risk assessment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrectly labeled sample
- Insufficient sample quantity
- Sample received in improper container
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of SDHA-related mitochondrial respiratory chain complex II deficiency. Genetic counseling and family screening are recommended.
Likely pathogenic variant detected
Very likely causal. Further family segregation analysis may be considered to support pathogenicity.
Variant of uncertain significance (VUS)
Currently cannot be classified as pathogenic or benign. Additional testing of family members and functional studies may help.
No pathogenic variant detected
A negative result does not exclude the diagnosis. Other genetic or biochemical testing may be needed based on clinical presentation.
If symptoms such as muscle weakness, fatigue, seizures, developmental delay, cardiomyopathy, lactic acidosis, or gastrointestinal problems are present, consult a physician or neurologist. Genetic testing should be performed under medical supervision with pre- and post-test genetic counseling.
Limitations
- ⚠This test analyzes only the SDHA gene and does not assess other nuclear or mitochondrial genes involved in mitochondrial complex II deficiency.
- ⚠It may not detect deep intronic variants, large copy number variations, or mitochondrial DNA variants.
- ⚠Variants of uncertain significance (VUS) may require further family studies and functional analysis.
- ⚠A negative result does not completely exclude mitochondrial respiratory chain complex II deficiency if clinical suspicion is high.
Risks & Considerations
- ●Slight bruising or pain at the site of blood draw
- ●Rare risk of infection with any blood draw
Interfering Factors
- ●Sample contamination or mixed samples
- ●Degraded DNA or low DNA yield
- ●Incomplete gene coverage due to technical limitations
- ●Misidentified or incorrectly labeled samples
- ●Presence of large deletions/duplications not detected by standard NGS
Compare With Similar Tests
| Test | SDHA Gene Mitochondrial respiratory chain complex II deficiency NGS Genetic Test | Mitochondrial DNA Genome Sequencing | Nuclear Mitochondrial Gene Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | SDHA Gene Mitochondrial respiratory chain complex II deficiency NGS Genetic Test |
Frequently Asked Questions
What is the cost of the SDHA Gene Mitochondrial Complex II Deficiency NGS Genetic Test?
What sample is required for this test?
How long does it take to get the report?
Is fasting required before the test?
What mutations does this test detect?
Can this test be done for children?
Is genetic counseling provided before the test?
Will this test detect mitochondrial DNA mutations?
What do 'Variant of Uncertain Significance' results mean?
Can I get the raw data files along with the report?
Is home sample collection available?
Is this test covered by insurance?
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✓ 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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