ETFA Gene Acyl-CoA multiple dehydrogenase deficiency NGS Genetic Test
Short Name: ETFA Gene MADD NGS Genetic Test
Also known as: MADD Genetic Test, ETFA Mutation Analysis, Glutaric Aciduria Type II
ETFA Gene Acyl-CoA multiple dehydrogenase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in Results are available online within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To identify mutations in the ETFA gene for accurate diagnosis of Acyl-CoA multiple dehydrogenase deficiency (MADD), guide treatment strategies, and enable carrier testing for family members.
- Test Code
- 1871
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or One drop Blood on FTA Card
- Result Time
- Results are available online within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
No specific preparation required. Provide clinical history and undergo genetic counseling to discuss test implications.
Laboratory Analysis
A blood sample is drawn from a vein or collected via finger-prick for FTA card. Ensure proper labeling and handling.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store the sample as instructed for stability.
Timeline: Results are available online within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the ETFA gene for accurate diagnosis of Acyl-CoA multiple dehydrogenase deficiency (MADD), guide treatment strategies, and enable carrier testing for family members.
How to Prepare
- Use sterile collection tubes or FTA cards
- Label samples with patient details and test information
- Transport samples at ambient room temperature to the lab
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for early diagnosis and management of MADD, allowing for timely intervention and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Improperly labeled or unlabeled samples
- Samples exceeding stability timeframes
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of MADD; initiate treatment and family screening.
Action: Consult a metabolic specialist for management and genetic counseling.
No pathogenic variant detected
MADD is unlikely based on ETFA gene analysis; consider other diagnoses.
Action: Evaluate for alternative metabolic disorders with a healthcare provider.
Variant of uncertain significance (VUS)
Genetic change found but clinical significance unknown; further studies needed.
Action: Follow up with periodic reassessment and family history analysis.
Consult a doctor immediately if symptoms like metabolic crises, seizures, or severe weakness occur, or upon receiving a positive test result for MADD management.
Limitations
- ⚠May not detect all possible genetic variants, including large deletions or duplications
- ⚠Requires genetic counseling for result interpretation
- ⚠Not a standalone diagnostic tool; clinical correlation is essential
Risks & Considerations
- ●Minor bruising or discomfort at the puncture site
- ●Rare risk of infection or hematoma from blood draw
Interfering Factors
- ●Degraded or low-quality DNA sample
- ●Sample contamination during collection or processing
- ●Use of incorrect sample type (e.g., hemolyzed blood)
Frequently Asked Questions
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