ABCC8 Gene Hyperinsulinemic hypoglycemia type 1 NGS Genetic Test
Short Name: ABCC8 HH1 NGS Test
Also known as: ABCC8-Related Hyperinsulinism, Congenital Hyperinsulinism Type 1, HHF1
ABCC8 Gene Hyperinsulinemic hypoglycemia type 1 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 3-4 weeks from sample receipt. 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 identify pathogenic mutations in the ABCC8 gene that cause Hyperinsulinemic Hypoglycemia Type 1, enabling accurate diagnosis, targeted treatment, and informed genetic counseling.
- Test Code
- 2077
- ICD Code
- E16.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation required. Inform the laboratory of any medications or recent blood transfusions.
Method: Venipuncture or finger-prick for FTA card
Laboratory Analysis
A blood sample is drawn via venipuncture or a finger-prick for FTA card. The procedure is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Keep the area clean and dry.
Timeline: 3-4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the ABCC8 gene that cause Hyperinsulinemic Hypoglycemia Type 1, enabling accurate diagnosis, targeted treatment, and informed genetic counseling.
How to Prepare
- Ensure proper labeling of the sample with patient details
- Use sterile equipment for collection
- Transport the sample to the lab within the recommended stability period
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of HH1 is vital for managing severe hypoglycemia in affected infants and children, preventing neurological complications and guiding family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Clotted or hemolyzed blood sample
- Improper labeling or identification
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of HH1. Initiate treatment and genetic counseling.
No pathogenic variant detected
HH1 unlikely but consider other genetic causes or re-evaluate clinical presentation.
Variant of uncertain significance
Requires additional family studies and clinical correlation.
If symptoms of hypoglycemia persist despite a negative test, or if genetic counseling is needed for family planning or management.
Limitations
- ⚠May not detect all types of ABCC8 mutations (e.g., large deletions/duplications)
- ⚠Results require correlation with clinical findings and family history
- ⚠Genetic counseling is recommended for interpretation
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Rare risk of infection or hematoma
Interfering Factors
- ●Sample contamination or degradation
- ●Improper sample collection or storage
- ●Presence of inhibitors in DNA sample
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