HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic Test
Short Name: HMGCL Gene NGS Test
Also known as: HMGCL deficiency test, 3-HMG-CoA lyase deficiency genetic test, HMG-CoA lyase deficiency NGS test
HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose HMGCL gene mutations causing 3-hydroxy-3-methylglutaryl-CoA lyase deficiency for early intervention, management, and genetic counseling.
- Test Code
- 4619
- 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
Inform the healthcare provider about any medications, medical conditions, or family history. Genetic counseling is recommended prior to testing.
Method: Venipuncture or FTA card spotting
Laboratory Analysis
Standard blood draw procedure using sterile equipment. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store sample as instructed.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose HMGCL gene mutations causing 3-hydroxy-3-methylglutaryl-CoA lyase deficiency for early intervention, management, and genetic counseling.
How to Prepare
- No fasting required for this test
- Use sterile collection tubes or FTA cards
- Label sample correctly with patient details
- Transport sample at ambient temperature or as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of HMGCL deficiency, especially in families with a history of metabolic disorders. Genetic counseling is recommended before and after testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated sample
Understanding Your Results
Pathogenic mutation detected
Confirms diagnosis of HMGCL deficiency. Genetic counseling and management plan recommended.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed. Consult a geneticist.
No pathogenic mutation detected
Unlikely to have HMGCL deficiency based on this gene, but symptoms may be due to other causes. Clinical evaluation advised.
If symptoms such as recurrent hypoglycemia, vomiting, or developmental delays persist, or if there is a family history of metabolic disorders. Consult immediately during metabolic crises.
Limitations
- ⚠May not detect all types of mutations (e.g., large deletions)
- ⚠Requires genetic counseling for interpretation
- ⚠Results may need confirmation with other tests
Risks & Considerations
- ●Minor bruising or pain at puncture site
- ●Rare risk of infection
- ●Psychological impact of results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Improper sample storage
Compare With Similar Tests
| Test | HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency NGS Genetic Test |
Frequently Asked Questions
What is HMGCL Gene 3-hydroxy-3-methylglutaryl-CoA lyase deficiency?
How is the NGS Genetic Test performed?
What are the symptoms of HMGCL deficiency?
Who should get tested for HMGCL deficiency?
What is the cost of the test at DNA Labs India?
How long does it take to get the results?
Is home sample collection available?
What sample types are accepted?
How accurate is the NGS Genetic Test?
What do the results mean?
Is genetic counseling required before testing?
Are there any risks associated with the test?
Related Tests
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.