Galactosemia (Epimerase) Quantitative Blood Test
Short Name: Galactosemia Epimerase Test
Also known as: GALE Test, Epimerase Deficiency Test
Galactosemia (Epimerase) Quantitative Blood Test test available at DNA Labs India for ₹2,867. Uses Enzyme assay on Whole blood samples. Results in Sample collected daily by 4 pm; report available in 5 days.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of the Galactosemia (Epimerase) Quantitative Blood Test is to quantitatively measure galactose levels in the blood to diagnose galactosemia, specifically epimerase deficiency. This helps in early identification and management of the disorder to prevent long-term health issues.
- Test Code
- 639
- Price
- ₹2,867
- Sample Type
- Whole blood
- Result Time
- Sample collected daily by 4 pm; report available in 5 days.
- Fasting Required
- No
- Method
- Enzyme assay
Sample Collection
Avoid blood collection for at least 60 days after a transfusion. Provide detailed clinical and drug history.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein, typically in the arm, using standard venipuncture techniques.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. No special aftercare is usually needed.
Timeline: Sample collected daily by 4 pm; report available in 5 days.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Galactosemia (Epimerase) Quantitative Blood Test is to quantitatively measure galactose levels in the blood to diagnose galactosemia, specifically epimerase deficiency. This helps in early identification and management of the disorder to prevent long-term health issues.
How to Prepare
- Fasting is not required, but avoid collection within 60 days post-transfusion.
- Bring documentation of clinical and drug history to the sample collection.
- Sample must be refrigerated and not frozen for stability.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early diagnosis through this test is crucial for managing galactosemia and preventing complications such as cataracts and developmental delays."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected within 60 days of blood transfusion.
- Sample not refrigerated or frozen incorrectly.
- Missing clinical or drug history information.
Understanding Your Results
No evidence of galactosemia epimerase deficiency.
Range: Within reference range
Level: Normal
Possible galactosemia; further clinical evaluation and testing recommended.
Range: Above reference range
Level: Elevated
If the test result is abnormal or if symptoms persist, consult a healthcare provider or genetic specialist for further evaluation and management.
Limitations
- ⚠This test is specific for epimerase deficiency and may not detect other forms of galactosemia.
- ⚠Results should be interpreted in conjunction with clinical symptoms and family history.
Risks & Considerations
- ●Minimal risks such as bruising or infection at the puncture site.
- ●Rarely, dizziness or fainting during blood draw.
Interfering Factors
- ●Recent blood transfusion (avoid collection for 60 days post-transfusion).
- ●Certain medications or clinical conditions (must provide clinical and drug history).
Frequently Asked Questions
What is the Galactosemia (Epimerase) Quantitative Blood Test?
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