BCS1L Gene Mitochondrial complex III deficiency NGS Genetic Test
Short Name: BCS1L NGS Genetic Test
Also known as: BCS1L Gene Mutation Analysis, Mitochondrial Complex III Deficiency NGS Panel, BCS1L Next Generation Sequencing Test, Mitochondrial Respiratory Chain Complex III Genetic Test, BCS1L Related Mitochondrial Disorder Test
BCS1L Gene Mitochondrial complex III deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Whole Exome Sequencing, Bioinformatics Analysis, Variant Classification (ACMG Guidelines) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results are shared via online portal, email, and WhatsApp.. 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
This test is performed to confirm a genetic diagnosis of mitochondrial Complex III deficiency caused by BCS1L gene mutations. It aids in establishing a definitive molecular diagnosis, guiding clinical management, informing prognosis, facilitating genetic counselling for affected families, enabling carrier detection, and supporting prenatal or preimplantation genetic testing decisions.
- Test Code
- 1727
- CPT Code
- 81479
- ICD Code
- E88.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results are shared via online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Whole Exome Sequencing, Bioinformatics Analysis, Variant Classification (ACMG Guidelines)
Sample Collection
Genetic counselling session is recommended prior to sample collection. A detailed clinical history of the patient and a pedigree chart of affected family members should be prepared. No fasting is required unless specified by the referring physician.
Method: Venipuncture
Laboratory Analysis
A venipuncture blood draw of 3-5 mL into an EDTA (lavender top) tube is performed. Alternatively, extracted DNA or one drop of blood on an FTA card may be submitted. The sample is labelled and transported at ambient room temperature to the laboratory.
Report Delivery
After blood collection, pressure is applied to the venipuncture site to prevent bruising. The sample is processed and DNA is extracted for NGS analysis. Reports are available in 3 to 4 weeks.
Timeline: Reports are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results are shared via online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
This test is performed to confirm a genetic diagnosis of mitochondrial Complex III deficiency caused by BCS1L gene mutations. It aids in establishing a definitive molecular diagnosis, guiding clinical management, informing prognosis, facilitating genetic counselling for affected families, enabling carrier detection, and supporting prenatal or preimplantation genetic testing decisions.
How to Prepare
- No fasting is required for this test
- Sample should be collected under aseptic conditions
- Blood should be drawn into an EDTA (Lavender Top) tube
- Ensure proper labelling with patient details and date of collection
- Transport the sample at ambient room temperature within 48 hours of collection
- If using FTA card, allow blood drops to dry completely before packaging
- A completed test requisition form with clinical history must accompany the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Mitochondrial complex III deficiency caused by BCS1L gene mutations presents with a spectrum of neurological manifestations including developmental delay, seizures, and muscle weakness. Early genetic diagnosis through NGS testing is critical for initiating supportive treatment, genetic counselling, and family planning guidance. I recommend this test for patients presenting with unexplained multisystem mitochondrial symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Sample received without proper labelling or patient identification
- Insufficient sample volume
- Sample collected in incorrect tube type (non-EDTA)
- Sample contaminated or showing signs of microbial growth
Understanding Your Results
Pathogenic Variant Detected
Confirms the molecular diagnosis of BCS1L-related mitochondrial Complex III deficiency. Genetic counselling is recommended for family screening and reproductive planning.
Likely Pathogenic Variant Detected
Strong evidence supporting a genetic diagnosis. Correlation with clinical and biochemical findings is advised. Family studies may help confirm pathogenicity.
Variant of Uncertain Significance (VUS)
A genetic change was identified but current evidence is insufficient to classify it as pathogenic or benign. Re-analysis may be recommended as new data becomes available.
Likely Benign / Benign Variant
The detected variant is not associated with disease. Clinical investigation should continue with other diagnostic approaches if symptoms persist.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the BCS1L gene. Other genetic causes of Complex III deficiency or mitochondrial disorders may need to be investigated.
Consult a geneticist or neurologist if your child or family member presents with unexplained developmental delay, muscle weakness, seizures, lactic acidosis, renal tubulopathy, or failure to thrive. Early diagnosis through genetic testing enables appropriate management, supportive care, and genetic counselling for the family.
Limitations
- ⚠This test does not detect large genomic rearrangements or copy number variations in the BCS1L gene unless specified
- ⚠Deep intronic or regulatory region variants outside the targeted sequencing regions may not be detected
- ⚠Variants of uncertain significance (VUS) may require further family studies or functional analysis for reclassification
- ⚠Results should always be interpreted in the context of clinical findings and biochemical test results
- ⚠This test does not screen for mutations in other mitochondrial or nuclear genes associated with Complex III deficiency
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Psychological impact of genetic diagnosis on the patient and family
- ●Possibility of identifying variants of uncertain significance requiring further investigation
- ●Potential insurance and privacy implications of genetic test results
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Contamination during sample collection or transport
- ●Haematological malignancies with somatic mutations may complicate interpretation
Compare With Similar Tests
| Test | BCS1L Gene Mitochondrial complex III deficiency NGS Genetic Test | Sanger Sequencing of BCS1L Gene | Mitochondrial DNA Sequencing | Mitochondrial Respiratory Chain Enzyme Assay | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | BCS1L Gene Mitochondrial complex III deficiency NGS Genetic Test |
Frequently Asked Questions
What is the BCS1L Gene Mitochondrial Complex III Deficiency NGS Genetic Test?
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How is the sample collected for this test?
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Is fasting required for this test?
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