ACADSB Gene 2-methylbutyrylglycinuria NGS Genetic Test
Short Name: ACADSB Gene NGS Test
Also known as: Short-chain acyl-CoA dehydrogenase deficiency, ACADSB deficiency
ACADSB Gene 2-methylbutyrylglycinuria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 weeks. 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 this test is to diagnose 2-methylbutyrylglycinuria by identifying mutations in the ACADSB gene using NGS technology, enabling accurate clinical management and genetic counseling.
- Test Code
- 4616
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Genetic counseling is recommended prior to testing.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site with a cotton ball to stop bleeding. Avoid strenuous activity for a few hours.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose 2-methylbutyrylglycinuria by identifying mutations in the ACADSB gene using NGS technology, enabling accurate clinical management and genetic counseling.
How to Prepare
- Ensure proper identification and prescription
- Inform the collector of any bleeding disorders
- Follow standard blood draw procedures
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for ACADSB gene mutations is crucial for managing 2-methylbutyrylglycinuria, enabling timely intervention and informed family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improperly labeled container
Understanding Your Results
No pathogenic variants
Normal result; no mutation detected in the ACADSB gene.
Pathogenic variants detected
Abnormal result; confirms diagnosis of 2-methylbutyrylglycinuria. Clinical correlation and genetic counseling recommended.
Consult a genetic specialist or metabolic disorder expert if symptoms persist, worsen, or if there is a family history of the condition.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires interpretation by a genetic specialist
- ⚠Not a substitute for clinical evaluation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | ACADSB Gene 2-methylbutyrylglycinuria NGS Genetic Test | Organic Acids Test | Whole Exome Sequencing | Amino Acid Panel | Newborn Screening Test |
|---|---|---|---|---|---|
| Comparison | ACADSB Gene 2-methylbutyrylglycinuria NGS Genetic Test | Detects metabolic byproducts but not specific gene mutations. | Broader genetic analysis but more expensive and time-consuming. | Measures amino acid levels but does not identify genetic causes. | May include metabolic disorders but not specific for ACADSB gene. |
Frequently Asked Questions
What is ACADSB gene 2-methylbutyrylglycinuria?
What are the common symptoms of this condition?
How is ACADSB gene 2-methylbutyrylglycinuria diagnosed?
What is the cost of the NGS Genetic Test?
Is fasting required for this test?
How long does it take to get the results?
Is home sample collection available?
What sample type is needed?
Can this test detect all mutations in the ACADSB gene?
Who should consider this test?
Is genetic counseling provided?
What should I do if the test is positive?
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