ALDOB Gene Fructose intolerance NGS Genetic Test
Short Name: ALDOB Fructose Intolerance Test
Also known as: Hereditary Fructose Intolerance Genetic Test, ALDOB Gene Mutation Analysis
ALDOB Gene Fructose intolerance 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 ALDOB Gene Fructose Intolerance NGS Genetic Test is to detect mutations in the ALDOB gene that cause hereditary fructose intolerance. This test helps confirm diagnosis, guide dietary interventions to avoid fructose, and assess family risk through genetic counseling. It is recommended for individuals with symptoms of fructose intolerance or a family history of the condition.
- Test Code
- 1994
- ICD Code
- E74.1
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation is required. Ensure proper identification and provide clinical history as per pre-test information.
Method: Venipuncture or Finger Prick
Laboratory Analysis
A blood sample is collected via venipuncture from a vein in the arm or via a finger prick for FTA card samples.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball to prevent bruising. Resume normal activities.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ALDOB Gene Fructose Intolerance NGS Genetic Test is to detect mutations in the ALDOB gene that cause hereditary fructose intolerance. This test helps confirm diagnosis, guide dietary interventions to avoid fructose, and assess family risk through genetic counseling. It is recommended for individuals with symptoms of fructose intolerance or a family history of the condition.
How to Prepare
- Verify patient identity and sample labeling
- Use sterile equipment and aseptic technique
- Handle FTA cards carefully to avoid contamination
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for ALDOB mutations is essential for diagnosing hereditary fructose intolerance and enabling targeted dietary management to prevent complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrectly labeled or contaminated samples
Understanding Your Results
Positive for ALDOB mutation
Confirms hereditary fructose intolerance. Dietary avoidance of fructose is essential to manage symptoms and prevent complications.
Negative for ALDOB mutation
No pathogenic variants detected. Symptoms may be due to other conditions; further evaluation recommended.
Variant of uncertain significance
Genetic variant found but clinical significance unknown. Genetic counseling and follow-up testing may be needed.
Consult a genetic specialist or healthcare provider if symptoms persist after a negative test, for family risk assessment, or for personalized dietary management following a positive result.
Limitations
- ⚠May not detect all rare genetic variants
- ⚠Results require clinical correlation with symptoms and other tests
- ⚠Genetic counseling recommended for interpretation
Risks & Considerations
- ●Minimal risk from blood draw, such as slight pain or bruising
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Sample contamination during collection
- ●Insufficient DNA quality or quantity
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | ALDOB Gene Fructose intolerance NGS Genetic Test | Fructose Breath Test | Liver Biopsy | Metabolic Disorder Genetic Panel |
|---|---|---|---|---|
| Comparison | ALDOB Gene Fructose intolerance NGS Genetic Test | Non-invasive but less specific; detects fructose malabsorption rather than genetic cause. | Invasive procedure to assess enzyme activity; genetic test is preferred for definitive diagnosis. | Broader panel including multiple genes; ALDOB test is targeted for fructose intolerance. |
Frequently Asked Questions
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