G6PC2 Gene Hyperinsulinaemia, association with, G6PC2 related NGS Genetic Test
Short Name: G6PC2 NGS Genetic Test
Also known as: G6PC2 Gene Mutation Test, G6PC2 Hyperinsulinism Genetic Test, G6PC2 Next Generation Sequencing Test, Congenital Hyperinsulinism G6PC2 Panel, G6PC2 DNA Sequencing Test
G6PC2 Gene Hyperinsulinaemia, association with, G6PC2 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via online portal, email, and WhatsApp.. 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 this test is to identify pathogenic or likely pathogenic mutations in the G6PC2 gene that are associated with hyperinsulinaemia. It aids in confirming a clinical diagnosis, differentiating G6PC2-related hyperinsulinaemia from other forms of congenital hyperinsulinism, guiding treatment decisions, facilitating carrier testing in family members, and providing information for genetic counselling and family planning.
- Test Code
- 2079
- CPT Code
- 81479
- ICD Code
- E16.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via online portal, email, and WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation of Variants, Bioinformatic Analysis
Sample Collection
No special preparation or fasting is required. Ensure that the patient has not received a blood transfusion within the past 4 weeks. Provide complete clinical history and family pedigree information prior to sample collection.
Method: Venipuncture or FTA Card finger-prick
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender-top) tube under aseptic conditions. Alternatively, one drop of blood on an FTA card is accepted. The sample is labelled with patient details and stored at ambient temperature.
Report Delivery
The sample is transported to the laboratory at ambient room temperature. Genetic counselling is recommended post-collection to discuss expected findings, potential outcomes, and implications of the test results.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are delivered via online portal, email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the G6PC2 gene that are associated with hyperinsulinaemia. It aids in confirming a clinical diagnosis, differentiating G6PC2-related hyperinsulinaemia from other forms of congenital hyperinsulinism, guiding treatment decisions, facilitating carrier testing in family members, and providing information for genetic counselling and family planning.
How to Prepare
- Collect 3-5 mL venous blood in an EDTA (lavender-top) tube.
- Alternatively, place one drop of blood on an FTA card and allow to dry completely.
- Label the sample clearly with patient name, date of birth, and sample ID.
- Transport the sample at ambient room temperature (15-30°C).
- Do not freeze the blood sample prior to DNA extraction.
- Include completed test requisition form with clinical history and family pedigree.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"G6PC2 gene variants have been associated with variations in fasting glucose levels and insulin secretion. Genetic testing through NGS allows precise identification of pathogenic or likely pathogenic variants, which is essential for clinical management of patients with unexplained hyperinsulinaemia. Early genetic diagnosis can guide targeted treatment strategies and facilitate informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample collected in EDTA tube
- Heavily haemolysed or lipaemic sample
- Sample with insufficient volume (< 2 mL)
- Unlabelled or mislabelled sample
- Sample received without completed requisition form
- Sample collected within 4 weeks of a blood transfusion
Understanding Your Results
One or more pathogenic or likely pathogenic variants were identified in the G6PC2 gene. This is consistent with G6PC2-related hyperinsulinaemia. Clinical correlation and genetic counselling are strongly recommended. Family cascade testing may be indicated.
Confirms diagnosis of G6PC2-related hyperinsulinaemia
Result type: Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the G6PC2 gene. This result does not completely rule out a genetic cause for the patient's clinical presentation, as other genes may be involved.
G6PC2-related hyperinsulinaemia is unlikely; consider alternative genetic or non-genetic causes
Result type: No Pathogenic Variant Detected
A variant of uncertain significance was detected. The clinical relevance of this variant cannot be determined at this time. Additional family studies and functional analyses may be needed to clarify pathogenicity.
Requires clinical correlation, follow-up, and possible reclassification over time
Result type: Variant of Uncertain Significance (VUS)
A single heterozygous pathogenic variant was identified, consistent with carrier status. Genetic counselling is recommended for family planning implications.
Individual is a carrier; risk of affected offspring if partner is also a carrier
Result type: Carrier Status Identified
Consult a doctor or genetic counsellor if you or your child experiences recurrent episodes of low blood sugar, unexplained fatigue, excessive sweating, seizures, or if there is a known family history of hyperinsulinaemia or congenital hyperinsulinism. If your test result is positive or reveals a variant of uncertain significance, seek genetic counselling to understand the implications and plan appropriate management.
Limitations
- ⚠This test does not detect large structural rearrangements beyond the analytical sensitivity of NGS.
- ⚠Variants of uncertain significance (VUS) may be identified that cannot be definitively classified at the time of reporting.
- ⚠Deep intronic variants outside the targeted region and regulatory region mutations may not be detected.
- ⚠This test does not assess for epigenetic changes or methylation abnormalities in the G6PC2 gene.
- ⚠A negative result does not exclude other genetic or non-genetic causes of hyperinsulinaemia.
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Extremely rare risk of infection at the puncture site
- ●Emotional or psychological impact of genetic test results
- ●Potential identification of variants of uncertain significance that may cause anxiety
Interfering Factors
- ●Degraded or insufficient DNA quality from the submitted sample
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Concurrent use of high-dose biotin supplements may interfere with certain downstream assays
- ●Sample contamination during collection or transport
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Frequently Asked Questions
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