HMGCS2 Gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency NGS Genetic Test
Short Name: HMGCS2 Gene NGS Test
Also known as: HMGCS2 Deficiency, HMG-CoA Synthase 2 Deficiency
HMGCS2 Gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 diagnose 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency through genetic analysis, enabling early intervention and management of metabolic symptoms.
- Test Code
- 4622
- 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
- NGS Technology
Sample Collection
No specific preparation required. Provide clinical history and family pedigree chart.
Laboratory Analysis
Blood sample will be drawn by a trained phlebotomist using sterile equipment.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Keep the area clean.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency through genetic analysis, enabling early intervention and management of metabolic symptoms.
How to Prepare
- Ensure proper patient identification
- Use sterile collection tubes
- Label samples correctly
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for diagnosing rare metabolic disorders and guiding treatment, especially in pediatric and prenatal cases."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Improper labeling
Understanding Your Results
Positive
Pathogenic mutation detected, consistent with HMGCS2 deficiency. Clinical correlation recommended.
Negative
No pathogenic variants detected. Symptoms may be due to other causes.
Variant of uncertain significance
Genetic variant found but clinical significance unknown. Further testing may be needed.
If symptoms persist or worsen, or if genetic test results are positive, consult a geneticist or metabolic specialist for management.
Limitations
- ⚠May not detect all genetic variants
- ⚠Results require clinical correlation
Risks & Considerations
- ●Minor bruising at puncture site
- ●Infection risk (rare)
- ●Fainting during blood draw
Interfering Factors
- ●Sample contamination
- ●Improper sample storage
Frequently Asked Questions
What is HMGCS2 Gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency?
What are the symptoms of HMGCS2 deficiency?
How is HMGCS2 deficiency diagnosed?
What is NGS Genetic Testing?
What is the cost of the HMGCS2 Gene NGS Test?
Is the test covered by insurance?
How long does it take to get results?
What sample is required for the test?
Is home sample collection available?
Who should consider this test?
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Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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