Galactosemia Panel 2 Test
Short Name: Galactosemia Panel 2
Also known as: Galactosemia Genetic Panel, GALT/GALK/GALE Mutation Test
Galactosemia Panel 2 Test test available at DNA Labs India for ₹4,500. Uses Spot Test, Enzyme Assay on Whole blood, Control blood, Plasma samples. Results in Report available within 5 days of sample collection, with daily sample pickup by 4 pm.. 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 primary purpose of the Galactosemia Panel 2 Test is to diagnose galactosemia by detecting mutations in genes responsible for galactose metabolism. It is used to confirm suspected cases based on symptoms or newborn screening results, and to identify carriers for genetic counseling, enabling early treatment and prevention of health issues.
- Test Code
- 640
- Price
- ₹4,500
- Sample Type
- Whole blood, Control blood, Plasma
- Result Time
- Report available within 5 days of sample collection, with daily sample pickup by 4 pm.
- Fasting Required
- No
- Method
- Spot Test, Enzyme Assay
Sample Collection
Avoid sample collection for 60 days post blood transfusion. Ensure clinical and drug history is provided with the sample.
Method: Venipuncture
Laboratory Analysis
Standard venipuncture procedure is performed by a trained phlebotomist to collect blood samples in specified tubes.
Report Delivery
Samples are labeled, shipped refrigerated, and not frozen to ensure stability for enzyme assay and genetic testing.
Timeline: Report available within 5 days of sample collection, with daily sample pickup by 4 pm.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the Galactosemia Panel 2 Test is to diagnose galactosemia by detecting mutations in genes responsible for galactose metabolism. It is used to confirm suspected cases based on symptoms or newborn screening results, and to identify carriers for genetic counseling, enabling early treatment and prevention of health issues.
How to Prepare
- Collect 4 mL whole blood in 1 Green Top (Sodium Heparin) tube
- Collect 4 mL control blood in 1 Green Top (Sodium Heparin) tube
- Collect 2 mL plasma from 1 Green Top (Sodium Heparin) tube
- Ship samples refrigerated; do not freeze
- Include clinical and drug history documentation
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic testing for galactosemia is crucial for newborns at risk, enabling early intervention and management to prevent serious health complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Frozen samples
- Samples without accompanying clinical and drug history
- Samples collected within 60 days of blood transfusion
- Insufficient sample volume or improper container
Understanding Your Results
Normal enzyme activity and no pathogenic mutations detected
No evidence of galactosemia or carrier status; normal galactose metabolism
Low GALT enzyme activity (<5%) with mutations
Classical Galactosemia indicated; immediate dietary intervention recommended
Intermediate enzyme activity (5-20%)
Possible Duarte variant galactosemia or carrier status; further evaluation needed
Elevated plasma galactose levels
May suggest galactosemia, severe hepatitis, or biliary atresia; correlate with clinical context
Consult a healthcare provider if symptoms like jaundice, vomiting, or developmental delays appear, or if test results indicate abnormality for appropriate management and genetic counseling.
Limitations
- ⚠May not detect all genetic variants or rare mutations
- ⚠Results should be interpreted in conjunction with clinical symptoms and other diagnostic tests
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection
- ●No significant long-term risks associated with the test
Interfering Factors
- ●Recent blood transfusion (avoid sample collection for 60 days post-transfusion)
- ●Clinical and drug history must accompany the sample for accurate interpretation
Frequently Asked Questions
What is the Galactosemia Panel 2 Test?
Why is this test recommended?
What are the symptoms of galactosemia?
How is the test performed?
What sample is required for the test?
Is fasting required for the test?
How long does it take to get results?
What do the results mean?
Can this test detect carriers of galactosemia?
Is home sample collection available for this test?
What is the cost of the Galactosemia Panel 2 Test?
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