Short Description

This assay is useful for the detection of mutations in G6PD gene. G6PD deficiency, also known as favism (after the fava bean) is an X-linked recessive genetic condition that predisposes to hemolysis (spontaneous destruction of red blood cells) and resultant jaundice in response to a number of triggers, such as certain foods, illness, or medication.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

G6PD Gene Mutation Detection Test Cost INR:7500 Symptoms Diagnosis

G6PD (Glucose-6-Phosphate Dehydrogenase) is an essential enzyme required for red blood cell function. G6PD deficiency is a genetic disorder caused by mutations in the G6PD gene. It affects approximately 400 million people worldwide and is most common in Africa, Asia, and the Mediterranean region.

The G6PD gene mutation detection test is a diagnostic test used to identify G6PD deficiency. The test is performed by analyzing a blood sample for the presence of G6PD enzyme activity. The test is typically recommended for individuals with a family history of G6PD deficiency, those from high-risk ethnic groups, and those with symptoms of G6PD deficiency.

Symptoms of G6PD Deficiency

Individuals with G6PD deficiency may experience symptoms such as:

• Jaundice (yellowing of the skin and eyes)
• Dark urine
• Fatigue
• Shortness of breath
• Rapid heartbeat
• Enlarged spleen
• Abdominal pain

Symptoms can be triggered by certain medications, foods, and infections.

Diagnosis of G6PD Deficiency

The diagnosis of G6PD deficiency is typically made using the G6PD gene mutation detection test. The test is performed on a blood sample, and results are typically available within a few days.

Other tests that may be used to help diagnose G6PD deficiency include:

• Complete blood count (CBC)
• Peripheral blood smear
• Bilirubin level test
• Direct and indirect coombs test

G6PD Gene Mutation Detection Test Cost

The cost of the G6PD gene mutation detection test in India is typically around INR 7500. However, the cost may vary depending on the laboratory or facility where the test is performed.

Conclusion

G6PD deficiency is a genetic disorder that affects millions of people worldwide. Symptoms can be triggered by certain medications, foods, and infections. The G6PD gene mutation detection test is a diagnostic test used to identify G6PD deficiency and is typically recommended for individuals with a family history of G6PD deficiency, those from high-risk ethnic groups, and those with symptoms of G6PD deficiency. The cost of the test in India is typically around INR 7500.

If you suspect that you or a loved one may have G6PD deficiency, it is essential to consult with a healthcare provider for proper diagnosis and treatment.

This assay is useful for the detection of mutations in G6PD gene. G6PD deficiency, also known as favism (after the fava bean) is an X-linked recessive genetic condition that predisposes to hemolysis (spontaneous destruction of red blood cells) and resultant jaundice in response to a number of triggers, such as certain foods, illness, or medication.