SERAC1 Gene 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome NGS Genetic Test
Short Name: SERAC1 Gene NGS Test
Also known as: 3-MGA type VII, MGCA7, SERAC1 deficiency
SERAC1 Gene 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like 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 3 to 4 weeks from sample receipt. 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 confirm a genetic diagnosis of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome by detecting pathogenic variants in the SERAC1 gene, aiding in clinical management and family planning.
- Test Code
- 1873
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Genetic counseling recommended prior to testing.
Method: Venipuncture or Finger-prick
Laboratory Analysis
Blood sample collected via venipuncture or finger-prick for FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bleeding and bruising.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To confirm a genetic diagnosis of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome by detecting pathogenic variants in the SERAC1 gene, aiding in clinical management and family planning.
How to Prepare
- Clean the site with alcohol swab
- Use sterile needle and syringe
- Label sample with patient details
- Store at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through genetic testing can guide treatment and family counseling for this rare metabolic disorder, improving patient outcomes and quality of life."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Incorrect sample type
- Insufficient volume
- Clotted sample
- Mislabeled specimen
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of SERAC1-related disorder
Likely pathogenic variant detected
Strong evidence for clinical significance, correlates with symptoms
Variant of uncertain significance
Further investigation and clinical correlation needed
No pathogenic variant detected
Does not exclude diagnosis; consider other genetic or metabolic tests
Consult a geneticist or neurologist if symptoms suggest a metabolic disorder, or for genetic counseling after receiving positive results.
Limitations
- ⚠May not detect all possible mutations
- ⚠Variants of uncertain significance (VUS) may be reported
- ⚠Does not rule out other genetic causes
Risks & Considerations
- ●Minimal risks associated with blood draw: bruising, infection, dizziness
Interfering Factors
- ●Sample contamination
- ●Hemolyzed blood sample
- ●Degraded DNA
Compare With Similar Tests
| Test | SERAC1 Gene 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome NGS Genetic Test | SERAC1 Gene Sanger Sequencing | Metabolic Disorder Gene Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | SERAC1 Gene 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome NGS Genetic Test |
Frequently Asked Questions
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