Galactosemia Panel 1 Test
Short Name: Galactosemia Panel 1
Also known as: GALT Deficiency, Classical Galactosemia, Duarte Variant Galactosemia
Galactosemia Panel 1 Test test available at DNA Labs India for ₹2,867. Uses Spot Test, Enzyme assay on Whole Blood samples. Results in Report available in 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
To screen for and diagnose galactosemia, particularly classical galactosemia due to GALT deficiency, and Duarte variant, using enzyme assay and genetic analysis.
- Test Code
- 637
- Price
- ₹2,867
- Sample Type
- Whole Blood
- Result Time
- Report available in 5 days after sample collection.
- Fasting Required
- No
- Method
- Spot Test, Enzyme assay
Sample Collection
Avoid sample collection for 60 days post transfusion. Provide clinical and drug history with the sample.
Method: Venipuncture
Laboratory Analysis
Sample collected via venipuncture into specified green top tubes for whole blood and control blood.
Report Delivery
Ship refrigerated. Do not freeze the sample.
Timeline: Report available in 5 days after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
To screen for and diagnose galactosemia, particularly classical galactosemia due to GALT deficiency, and Duarte variant, using enzyme assay and genetic analysis.
How to Prepare
- Collect 4 mL whole blood in one Green Top (Sodium Heparin) tube
- Collect 4 mL control blood in another Green Top tube
- Ship refrigerated at 2-8°C
- Do not freeze the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of galactosemia through genetic testing is crucial for preventing severe complications such as liver damage and intellectual disability. This test helps confirm the condition in suspected cases, enabling timely dietary management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Frozen samples
- Insufficient sample volume
- Sample collected post-transfusion within 60 days without history
Understanding Your Results
Normal GALT activity (>20%)
No evidence of galactosemia; may be carrier or unaffected
Low GALT activity (<5%)
Indicates Classical Galactosemia, requiring immediate dietary intervention
Moderate GALT activity (5-20%)
Suggests Duarte variant galactosemia, often with milder symptoms
Elevated galactose-1-phosphate
Supports diagnosis of galactosemia and need for further evaluation
If symptoms of galactosemia are present, such as jaundice or poor growth, or if newborn screening results are abnormal.
Limitations
- ⚠May not detect all rare genetic mutations
- ⚠Requires clinical correlation for definitive diagnosis
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare risk of infection
- ●Slight discomfort during blood draw
Interfering Factors
- ●Recent blood transfusion (avoid for 60 days)
- ●Certain medications affecting enzyme activity
Compare With Similar Tests
| Test | Galactosemia Panel 1 Test | Newborn Screening Test | GALT Gene Sequencing |
|---|---|---|---|
| Comparison | Galactosemia Panel 1 Test |
Frequently Asked Questions
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