SDHAF1 Gene Mitochondrial complex II deficiency NGS Genetic Test
Short Name: SDHAF1 NGS Test
Also known as: SDHAF1 Gene Sequencing, Complex II Deficiency Genetic Test, SDHAF1 Mitochondrial Disorder Panel
SDHAF1 Gene Mitochondrial 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 One drop Blood on FTA Card samples. Results in Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. Raw data files are provided upon request.. 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 NGS genetic test is to detect pathogenic variants in the SDHAF1 gene that may cause mitochondrial complex II deficiency. This test aids in confirming a clinical diagnosis, assessing recurrence risk, and facilitating genetic counselling and disease management.
- Test Code
- 4310
- ICD Code
- E88.49
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. Raw data files are provided upon request.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
A genetic counselling session is required to draw a pedigree chart of family members affected with SDHAF1 gene mitochondrial complex II deficiency. No fasting is necessary. Please ensure to share clinical history and relevant medical records.
Method: Venipuncture or FTA card finger-prick
Laboratory Analysis
The sample will be collected via venipuncture for blood, or a simple finger-prick for FTA card collection. The procedure is quick and involves minimal discomfort.
Report Delivery
The sample will be securely transported to our NGS laboratory. Results are generally available within 3 to 4 weeks. You will be notified when the report and raw data files are ready.
Timeline: Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory. Raw data files are provided upon request.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SDHAF1 gene that may cause mitochondrial complex II deficiency. This test aids in confirming a clinical diagnosis, assessing recurrence risk, and facilitating genetic counselling and disease management.
How to Prepare
- Home sample collection is available for all major cities across India.
- For blood sample, use EDTA vacutainer (purple top).
- If using FTA card, apply one drop of blood onto the card and let it air dry.
- Label the sample with patient name and unique ID.
- Store the blood sample at 2-8°C until pickup.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Mitochondrial complex II deficiency can present with non-specific symptoms. A thorough family history and genetic counselling are essential for accurate diagnosis and recurrence risk assessment."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Hemolyzed sample
- Incorrect anticoagulant (e.g., heparin)
- Sample unlabeled or mislabeled
- Sample leaking during transport
Understanding Your Results
No pathogenic variant detected
Negative test. Does not confirm SDHAF1-related condition, but cannot fully rule out mitochondrial complex II deficiency caused by other genes.
Pathogenic variant detected (heterozygous/homozygous/hemizygous)
Positive test. Confirms the genetic diagnosis, consistent with mitochondrial complex II deficiency. Recommend genetic counselling and family variant testing.
Variant of uncertain significance (VUS)
A DNA change was found but its clinical significance is unknown. Further genetic testing of family members, functional studies, or RNA analysis may be required.
Consult a clinical geneticist or a neurologist if the test shows a pathogenic variant, or if symptoms persist despite a negative test. Also seek expert guidance for reproductive planning and family screening.
Limitations
- ⚠This NGS test specifically analyses the SDHAF1 gene and does not evaluate other mitochondrial disease genes.
- ⚠Large deletions, duplications, or structural rearrangements may not be detected by standard NGS.
- ⚠Somatic mosaicism might be under-detected in blood-derived DNA.
- ⚠Variants in non-coding regulatory regions may not be covered fully.
- ⚠In some cases, a variant of uncertain significance may not be diagnostic and further studies may be needed.
Risks & Considerations
- ●Minimal: possible bruising or slight pain at venipuncture site
- ●Psychological impact of potential positive result for a genetic disorder
- ●Possibility of ambiguous results (VUS) requiring further testing
Interfering Factors
- ●Poor DNA quality or quantity
- ●EDTA sample not stored appropriately
- ●Low sequencing coverage in specific regions
- ●Variants of uncertain significance may require further familial testing
- ●Contamination from maternal DNA during extraction (for research settings)
Compare With Similar Tests
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Frequently Asked Questions
What is the cost of the SDHAF1 gene mitochondrial complex II deficiency NGS genetic test?
What is the SDHAF1 gene and how is it related to mitochondrial complex II deficiency?
What sample is required for this genetic test?
Do I need to fast before the test?
How long will it take to get the test reports?
Will DNA Labs India provide raw data files?
What does 'NGS' mean in this context?
Can this test detect all mitochondrial complex II deficiency causes?
Is genetic counselling required before the test?
What are the symptoms of SDHAF1 gene mitochondrial complex II deficiency?
How accurate is the NGS genetic test for SDHAF1?
In which cities is home sample collection available?
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