ETFB Gene Acyl-CoA multiple dehydrogenase deficiency NGS Genetic Test
Short Name: ETFB MADD NGS Genetic Test
Also known as: Multiple Acyl-CoA Dehydrogenase Deficiency, MADD, Glutaric Acidemia Type II
ETFB Gene Acyl-CoA multiple dehydrogenase 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 3-4 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
The purpose of the ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic Test is to diagnose MADD by detecting pathogenic mutations in the ETFB gene. This helps in confirming the disorder, guiding treatment plans, assessing carrier status, and providing genetic counseling for affected families.
- Test Code
- 1870
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation is required. Provide a detailed clinical history and family pedigree during the genetic counseling session prior to sample collection.
Method: Venipuncture (blood draw) or saliva collection
Laboratory Analysis
A small blood sample (5 ml) will be drawn from a vein in your arm, or a saliva sample may be collected. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site with a cotton ball to prevent bruising. Resume normal activities immediately. Store the sample as instructed by the collection kit.
Timeline: 3-4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency NGS Genetic Test is to diagnose MADD by detecting pathogenic mutations in the ETFB gene. This helps in confirming the disorder, guiding treatment plans, assessing carrier status, and providing genetic counseling for affected families.
How to Prepare
- Complete the clinical history form provided by DNA Labs India.
- Attend a genetic counseling session to draw a pedigree chart of family members affected with MADD.
- Ensure the sample is collected in a sterile environment and labeled correctly.
- Use the provided FTA card for one-drop blood collection if applicable.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through genetic testing is crucial for managing Multiple Acyl-CoA Dehydrogenase Deficiency and preventing life-threatening complications. Consult a genetic counselor for personalized guidance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample improperly labeled or unlabeled
- Insufficient sample volume or hemolyzed blood
- Contaminated or degraded sample
- Missing clinical history or consent forms
Understanding Your Results
Consult a doctor or genetic specialist if you experience symptoms like chronic fatigue, muscle pain, low blood sugar, or have a family history of MADD. Also, seek advice after receiving test results for personalized management.
Limitations
- ⚠May not detect all types of genetic variants, such as deep intronic mutations
- ⚠Requires clinical correlation and genetic counseling for accurate interpretation
- ⚠Not suitable for prenatal diagnosis without additional confirmation
Risks & Considerations
- ●Minimal risk: Slight pain or bruising at the needle site
- ●Rare risk: Infection or dizziness during blood draw
Interfering Factors
- ●Sample contamination or degradation
- ●Improper sample storage or handling
- ●Recent blood transfusions (may affect DNA purity)
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Frequently Asked Questions
What is ETFB Gene Acyl-CoA Multiple Dehydrogenase Deficiency?
What are the common symptoms of this disorder?
How is the ETFB Gene NGS Genetic Test performed?
What is the cost of the ETFB Gene NGS Genetic Test?
Is the test covered by health insurance?
How long does it take to get the test results?
What should I do if I get a positive result?
Can this test be done at home?
Is genetic counseling required for this test?
Are there any risks associated with the test?
Where can I get this test done in India?
Can this test detect carrier status for MADD?
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