SLC16A1 Gene Hyperinsulinemic hypoglycemia type 7 NGS Genetic Test
Short Name: SLC16A1 HH7 NGS Test
Also known as: HH7 Genetic Test, SLC16A1 Mutation Analysis, Hyperinsulinemic Hypoglycemia Type 7 Gene Test
SLC16A1 Gene Hyperinsulinemic hypoglycemia type 7 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. 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 SLC16A1 gene that cause Hyperinsulinemic Hypoglycemia Type 7, enabling definitive diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.
- Test Code
- 2092
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation is required. Provide a detailed clinical history and family pedigree information for genetic counseling.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect a blood sample via venipuncture from a vein in the arm. For FTA card samples, a finger prick may be used.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball to prevent bruising. Resume normal activities unless otherwise advised.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the SLC16A1 gene that cause Hyperinsulinemic Hypoglycemia Type 7, enabling definitive diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.
How to Prepare
- Ensure proper identification and labeling of the sample
- Use sterile collection equipment to avoid contamination
- Store samples at ambient room temperature before transport
- For FTA card blood drops, allow the sample to dry completely before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of SLC16A1 mutations is crucial for managing Hyperinsulinemic Hypoglycemia Type 7, preventing severe complications such as seizures and developmental delays, and guiding personalized treatment strategies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or hemolyzed samples
- Incorrect sample type or container
- Improperly labeled or identified samples
Understanding Your Results
No pathogenic variants detected
Unlikely to have HH7 due to SLC16A1 mutations; clinical correlation and further testing for other genetic causes may be recommended.
Pathogenic variants detected
Confirms diagnosis of Hyperinsulinemic Hypoglycemia Type 7; immediate consultation with a geneticist or endocrinologist for treatment planning and family counseling is advised.
Consult a healthcare provider immediately if symptoms of hypoglycemia (e.g., seizures, confusion, poor feeding) are present, or upon receiving positive genetic test results for HH7.
Limitations
- ⚠May not detect all types of genetic variants in the SLC16A1 gene
- ⚠Results require interpretation by a qualified genetic counselor or healthcare provider
- ⚠Does not rule out other genetic or non-genetic causes of hyperinsulinemic hypoglycemia
Risks & Considerations
- ●Minimal risk associated with blood draw, such as bruising or infection
- ●Genetic testing may reveal incidental findings requiring counseling
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality due to improper storage
- ●Incorrect sample type or collection technique
Frequently Asked Questions
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