FBP1 Gene Fructose-1,6-bisphosphatase deficiency NGS Genetic Test
Short Name: FBP1 Gene NGS Test
Also known as: FBP1 deficiency, Fructose-1,6-bisphosphatase deficiency
FBP1 Gene Fructose-1,6-bisphosphatase deficiency 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 Results available 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
To detect mutations in the FBP1 gene for diagnosis of Fructose-1,6-bisphosphatase deficiency, enabling early treatment and management.
- Test Code
- 1997
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results available in 3 to 4 weeks.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart of affected family members.
Method: Venipuncture or FTA card blood drop
Laboratory Analysis
Blood sample will be collected via venipuncture or a drop on FTA card.
Report Delivery
Sample will be sent to the laboratory for NGS analysis.
Timeline: Results available in 3 to 4 weeks.
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the FBP1 gene for diagnosis of Fructose-1,6-bisphosphatase deficiency, enabling early treatment and management.
How to Prepare
- Collect blood in an appropriate container or use FTA card for a drop of blood
- Label sample correctly with patient details
- Store at ambient room temperature as specified
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for FBP1 deficiency is crucial for managing metabolic disorders in newborns and at-risk families, enabling timely intervention and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
- Unlabeled or mislabeled sample
Understanding Your Results
If symptoms of hypoglycemia, lactic acidosis, or other metabolic issues occur, or if there is a family history of FBP1 deficiency, consult a geneticist or healthcare provider immediately.
Limitations
- ⚠May not detect all mutations in the FBP1 gene
- ⚠Results should be interpreted in clinical context
- ⚠Genetic counseling recommended for interpretation
Risks & Considerations
- ●Bruising at the blood collection site
- ●Rare risk of infection
- ●Fainting in sensitive individuals
Interfering Factors
- ●Degraded DNA sample
- ●Contamination during sample collection
Frequently Asked Questions
What is FBP1 Gene Fructose-1,6-bisphosphatase deficiency?
What are the symptoms of FBP1 deficiency?
How is FBP1 deficiency diagnosed?
What is the cost of the FBP1 Gene NGS Genetic Test?
How long does it take to get results?
Is home sample collection available?
What sample is required for the test?
Is fasting required before the test?
What treatment options are available for FBP1 deficiency?
Is genetic counseling recommended?
How accurate is the NGS genetic test?
Who should get tested for FBP1 deficiency?
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