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.