HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase deficiency NGS Genetic Test
HIBCH Gene 3-hydroxyisobutryl-CoA hydrolase 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 to 4 weeks. 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 HIBCH gene for diagnosis of 3-hydroxyisobutryl-CoA hydrolase deficiency.
- Test Code
- 4620
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and undergo genetic counseling.
Method: Blood or Saliva Collection
Laboratory Analysis
Sample collection via blood draw or saliva.
Report Delivery
Sample sent to lab for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the HIBCH gene for diagnosis of 3-hydroxyisobutryl-CoA hydrolase deficiency.
How to Prepare
- Collect blood sample or provide saliva
- Use FTA card if needed
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Pathogenic variant detected
Diagnosis of 3-hydroxyisobutryl-CoA hydrolase deficiency likely
No pathogenic variant
Disorder unlikely based on genetic testing
If symptoms of developmental delay, seizures, or other signs are present.
Risks & Considerations
- ●Minor bruising or infection at collection site
Frequently Asked Questions
What is the HIBCH Gene test?
What are the symptoms of 3-hydroxyisobutryl-CoA hydrolase deficiency?
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Is the test covered by insurance?
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What sample is required for the test?
Is fasting required before the test?
Can the test be done at home?
What does a positive result mean?
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