Glucose 6 Phosphate (G6PD) Gene Mutations
A genetic test that detects mutations in the G6PD gene, which can lead to hemolytic anemia. It is important for diagnosing G6PD deficiency, especially in newborns and infants.
Glucose 6 Phosphate (G6PD) Gene Mutations Test in Haldwani Overview
No special preparations needed
- Glucose-6-phosphate (g6pd) Gene Mutations
This test identifies mutations in the G6PD (Glucose-6-Phosphate Dehydrogenase) gene, which may cause G6PD deficiency, a condition that leads to the destruction of red blood cells (hemolysis).
This test is recommended for:
- Individuals with unexplained anemia or jaundice.
- Newborns with prolonged neonatal jaundice.
- People with a family history of G6PD deficiency.
Individuals from high-risk ethnic groups (such as African, Mediterranean, and Asian descent).
A blood sample is collected, and genetic analysis is performed using PCR or sequencing techniques to detect mutations in the G6PD gene.
- Positive for Mutation: Confirms G6PD deficiency, which may lead to hemolytic anemia in response to triggers like certain foods, infections, or medications.
- Negative for Mutation: No mutations found, ruling out G6PD deficiency.
Early identification of G6PD deficiency helps prevent hemolytic crises by avoiding triggers and ensuring appropriate treatment.
Test code
RD1419
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Edta Whole Blood | Lavender Vacutainer | 3 ML |
Specimen stability information
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
₹4200
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₹4200