GALACTOSEMIA GENE MUTATIONS
The Galactosemia (GALT) Gene Mutation test detects mutations in the GALT gene responsible for the breakdown of galactose. Galactosemia is a metabolic disorder that can cause liver damage and cognitive impairment if untreated. Early diagnosis helps in dietary management and preventing complications.
GALACTOSEMIA GENE MUTATIONS Test in Bengaluru Overview
No special preparations needed
- Specimen Source
- Galactosemia Gene Mutations
This test detects mutations in the GALT gene, responsible for galactosemia, a disorder affecting galactose metabolism.
This test is recommended for:
- Newborns with a positive newborn screening result.
- Infants presenting with jaundice, vomiting, or failure to thrive.
- Individuals with a family history of galactosemia.
A blood sample is analyzed using DNA sequencing or PCR to detect mutations in the GALT gene.
- Positive Mutation: Confirms galactosemia diagnosis.
- Negative Mutation: Rules out galactosemia but does not exclude other metabolic disorders.
Early detection and management prevent severe complications, including liver damage and developmental delays.
Test code
RD1434
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Blood Spot | NeoNatal Cards | 2 |
| Edta Whole Blood | Lavender Vacutainer | 3 ML |
Specimen stability information
Blood Spot, Edta Whole Blood
Specimen rejection criteria
Test run frequency
Every Day TIME - 09:30
Turn around time
8 Working Days
Performing locations
Department
- Advanced Molecular Diagnostics R&d
CPT and Loinc codes
Package price
₹9000
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₹9000