SLC2A5 Gene Fructose uptake deficiency, SLC2A5 related NGS Genetic Test
Short Name: SLC2A5 Genetic Test
Also known as: GLUT5 deficiency, Hereditary fructose intolerance, SLC2A5-related fructose malabsorption
SLC2A5 Gene Fructose uptake deficiency, SLC2A5 related 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
The purpose of this test is to identify mutations in the SLC2A5 gene that cause fructose uptake deficiency, aiding in the diagnosis of hereditary fructose intolerance for appropriate dietary management and prevention of complications.
- Test Code
- 1988
- 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
No specific preparation required. Ensure clinical history and family pedigree are available for genetic counseling.
Method: Venipuncture or blood drop on FTA card
Laboratory Analysis
A blood sample will be collected via venipuncture or a blood drop on FTA card. Procedure is minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store sample as instructed for stability.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the SLC2A5 gene that cause fructose uptake deficiency, aiding in the diagnosis of hereditary fructose intolerance for appropriate dietary management and prevention of complications.
How to Prepare
- Use sterile equipment for blood collection
- Label sample correctly with patient details
- For FTA card, ensure blood drop is applied properly
- Maintain sample at ambient room temperature during transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for early diagnosis of hereditary fructose intolerance, allowing for dietary management to prevent severe complications like liver damage and growth failure."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrect sample labeling
- Insufficient sample volume
- Contaminated sample
Understanding Your Results
Consult a doctor if symptoms persist after a negative test, or if positive results require management planning. Genetic counseling is advised for all cases.
Limitations
- ⚠May not detect all possible mutations in the SLC2A5 gene
- ⚠Does not cover other genes involved in fructose metabolism
- ⚠Results require clinical correlation and genetic counseling
Risks & Considerations
- ●Minor bruising or discomfort at blood draw site
- ●Rare risk of infection
Interfering Factors
- ●Degraded DNA sample
- ●Contamination during sample collection
- ●Insufficient sample volume
Compare With Similar Tests
| Test | SLC2A5 Gene Fructose uptake deficiency, SLC2A5 related NGS Genetic Test | Hydrogen Breath Test | Fructose Intolerance Panel | Liver Function Test |
|---|---|---|---|---|
| Comparison | SLC2A5 Gene Fructose uptake deficiency, SLC2A5 related NGS Genetic Test |
Frequently Asked Questions
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