GLUD1 Gene Hyperinsulinemic hypoglycemia type 6 NGS Genetic Test
Short Name: GLUD1 Gene HH6 NGS Test
Also known as: Hyperinsulinemic Hypoglycemia Type 6 Genetic Test, GLUD1 Mutation Analysis, HH6 DNA Test
GLUD1 Gene Hyperinsulinemic hypoglycemia type 6 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic Test is to diagnose HH6 by detecting mutations in the GLUD1 gene. It helps confirm the genetic cause of hypoglycemia, enables appropriate treatment planning, and assesses risks for family members.
- Test Code
- 2087
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- Yes (8 hours)
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counseling session to discuss family history and clinical symptoms. Provide clinical details of the patient.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture under sterile conditions. For DNA extraction, ensure proper handling.
Report Delivery
Sample labeled and transported to the laboratory at ambient temperature for NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GLUD1 Gene Hyperinsulinemic Hypoglycemia Type 6 NGS Genetic Test is to diagnose HH6 by detecting mutations in the GLUD1 gene. It helps confirm the genetic cause of hypoglycemia, enables appropriate treatment planning, and assesses risks for family members.
How to Prepare
- Fast for 8-12 hours before sample collection if advised
- Inform about any medications or recent transfusions
- Provide complete clinical history and pedigree chart
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for HH6 is essential for early diagnosis and management, helping to prevent severe complications like seizures and developmental delays."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improper labeling or container
- Sample older than stability period
Understanding Your Results
Positive
GLUD1 mutation detected, confirming diagnosis of HH6. Clinical correlation and genetic counseling recommended.
Negative
No pathogenic GLUD1 mutations found. Consider other genetic or non-genetic causes of hypoglycemia.
Variant of uncertain significance (VUS)
A genetic variant identified but not clearly pathogenic. Further testing and clinical evaluation advised.
If test results are positive or if symptoms of hypoglycemia persist. For genetic counseling to understand inheritance patterns and family planning.
Limitations
- ⚠May not detect all possible GLUD1 variants
- ⚠Results require interpretation by a geneticist
- ⚠Does not assess other causes of hypoglycemia
- ⚠False negatives possible in rare cases
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Psychological impact of genetic diagnosis
- ●Implications for family members
Interfering Factors
- ●Sample contamination
- ●Inadequate sample volume or quality
- ●Recent blood transfusions
- ●Technical errors in sequencing
Compare With Similar Tests
| Test | GLUD1 Gene Hyperinsulinemic hypoglycemia type 6 NGS Genetic Test | ABCC8 Gene Hyperinsulinemic Hypoglycemia Test | Insulin Level Test | Glucose Tolerance Test | Comprehensive Metabolic Panel |
|---|---|---|---|---|---|
| Comparison | GLUD1 Gene Hyperinsulinemic hypoglycemia type 6 NGS Genetic Test |
Frequently Asked Questions
What is Hyperinsulinemic Hypoglycemia Type 6?
Who should consider this genetic test?
How is the GLUD1 Gene NGS Test performed?
What does a positive test result mean?
Is genetic testing safe?
How accurate is this test?
Can this test detect other causes of hypoglycemia?
Is fasting required before the test?
What is the cost of the test in India?
How long does it take to get results?
Do I need genetic counseling for this test?
What are the treatment options for HH6?
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