Galactosemia Classical (Transferase) Quantitative Blood Test
Short Name: Galactosemia Classical Test
Also known as: GALT Deficiency Test, Galactosemia Enzyme Assay, Galactose-1-phosphate Uridyltransferase Quantitative Test
Galactosemia Classical (Transferase) Quantitative Blood Test test available at DNA Labs India for ₹2,223. Uses Enzyme assay on Whole blood samples. Results in Reports are available within 5 days after sample collection.. 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 quantitatively assess GALT enzyme activity in the blood to diagnose classical galactosemia, confirm suspected cases, and guide dietary management to prevent complications.
- Test Code
- 638
- Price
- ₹2,223
- Sample Type
- Whole blood
- Result Time
- Reports are available within 5 days after sample collection.
- Fasting Required
- No
- Method
- Enzyme assay
Sample Collection
Avoid blood sample collection for at least 60 days after a transfusion. Provide clinical and drug history with the sample. No specific fasting required.
Method: Venipuncture
Laboratory Analysis
A blood sample is drawn from a vein using standard venipuncture technique. Ensure proper sample labeling and handling.
Report Delivery
The sample is shipped refrigerated but not frozen. Process the sample promptly for accurate results.
Timeline: Reports are available within 5 days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to quantitatively assess GALT enzyme activity in the blood to diagnose classical galactosemia, confirm suspected cases, and guide dietary management to prevent complications.
How to Prepare
- Collect 4 mL (minimum 2 mL) of whole blood in a sodium heparin (green top) tube
- Do not freeze the sample; ship refrigerated
- Avoid collection within 60 days of blood transfusion
- Include clinical and drug history with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through this test is crucial for initiating galactose-restricted diet, preventing liver damage and developmental delays."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected within 60 days post-transfusion
- Sample not refrigerated or frozen incorrectly
- Inadequate sample volume or improper container
- Missing clinical and drug history
Understanding Your Results
GALT activity < 5% of normal
Consistent with classical galactosemia; confirm with genetic testing
GALT activity 5-20% of normal
May indicate Duarte variant or other partial deficiencies; further evaluation needed
GALT activity > 20% of normal
Normal or carrier status; correlate with clinical findings
Consult a doctor if test results are abnormal, or if symptoms such as jaundice, vomiting, or poor growth persist. Genetic counseling is recommended for confirmed cases.
Limitations
- ⚠This test measures enzyme activity but may not detect all genetic variants; genetic testing may be needed for confirmation
- ⚠Results can be influenced by sample quality and timing of collection
- ⚠Not suitable for monitoring treatment efficacy once diet is established
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection or fainting
Interfering Factors
- ●Blood transfusion within the last 60 days may affect results
- ●Certain medications or clinical conditions; clinical and drug history must accompany the sample
- ●Improper sample handling or storage
Compare With Similar Tests
| Test | Galactosemia Classical (Transferase) Quantitative Blood Test | GALT Gene Sequencing | Galactosemia Newborn Screening | Galactokinase (GALK) Test |
|---|---|---|---|---|
| Comparison | Galactosemia Classical (Transferase) Quantitative Blood Test |
Frequently Asked Questions
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