G6PD Neonatal Screen Dried blood spot

To identify at-risk babies for G6PD enzyme deficiency at the earliest.

This is a screening test for newborn babies usually done within 48-72 hours of birth to detect inborn errors of metabolism.

Newborn Screening is a test that involves testing of infants at birth for certain genetically linked metabolic disorders which may affect baby’s physical, mental and intellectual development. This test checks for G6PD Deficiency in the newborn using G6PD as the marker analyte.

G6PD neonatal screen dried blood spot test is done for several reasons, including:

• To identify babies who have a deficiency in the G6PD enzyme, which can cause hemolytic anemia, a condition where red blood cells are destroyed faster than the body can replace them.
• To prevent complications that can arise from unrecognized G6PD deficiency, such as jaundice, severe anemia, and even death.
• To facilitate early management and treatment of G6PD deficiency, such as avoiding medications or foods that can trigger hemolysis, and monitoring for signs of anemia.
• To ensure the safety of certain medications and medical procedures, as some medications and treatments can trigger hemolysis in individuals with G6PD deficiency.
• To identify carriers of the G6PD deficiency gene, which can be important for family planning and genetic counseling.
• To prevent transmission of G6PD deficiency to future generations by identifying at-risk families and providing appropriate counseling and support.

The G6PD Neonatal Screen Dried Blood Spot test measures the level of G6PD enzyme activity in the baby's blood.

If the baby has low levels of G6PD, it may indicate that they have G6PD deficiency. If the G6PD Neonatal Screen Dried Blood Spot test results are abnormal, additional testing may be needed to confirm the diagnosis of G6PD deficiency and determine the severity of the deficiency. In some cases, treatment may be recommended.

During the test, a small amount of blood is collected from the baby's heel and dried on a special filter paper card. The dried blood spot is then sent to a laboratory for analysis.

No special preparation is required for the test. However, it is recommended that you consult with your healthcare provider before taking the test, as they may have specific instructions or recommendations based on your individual medical history and current health status.

The G6PD neonatal screen dried blood spot test is usually done as a routine test for all newborns, regardless of whether they have symptoms or not. However, in some cases, the test may be recommended if the baby has certain symptoms or risk factors, including:

• Jaundice: If the baby has jaundice, which is a yellowing of the skin and eyes, the G6PD test may be recommended to rule out G6PD deficiency as a possible cause.
• Anemia: If the baby has signs of anemia, such as paleness, fatigue, rapid heartbeat, or shortness of breath, the G6PD test may be recommended to identify the underlying cause.
• Family history: If there is a family history of G6PD deficiency, or if a sibling or other family member has been diagnosed with the condition, the G6PD test may be recommended for the newborn.
• Ethnicity: Some ethnic groups, such as people of African, Mediterranean, or Southeast Asian descent, have a higher prevalence of G6PD deficiency, and may be at higher risk of the condition.
• Exposure to certain medications or foods: Certain medications, such as some antibiotics, antimalarials, and painkillers, as well as certain foods, such as fava beans, can trigger hemolysis in individuals with G6PD deficiency. If the baby has been exposed to any of these triggers, the G6PD test may be recommended.

In addition to the G6PD neonatal screen dried blood spot test, other tests may be ordered depending on the baby's clinical presentation and medical history. These tests may include:

• Complete Blood Count (CBC): A CBC measures the number of red blood cells, white blood cells, and platelets in the blood. It can help identify anemia and other blood disorders.
• Bilirubin test: A bilirubin test measures the amount of bilirubin in the blood. High levels of bilirubin can cause jaundice, a yellowing of the skin and eyes, and can be a sign of G6PD deficiency.
• Coombs test: A Coombs test checks for antibodies that may be attacking the baby's red blood cells, which can be a sign of hemolytic anemia.
• Reticulocyte count: A reticulocyte count measures the number of young red blood cells in the blood. It can help determine if the bone marrow is producing enough red blood cells to replace the ones that are being destroyed.
• Genetic testing: Genetic testing can confirm a diagnosis of G6PD deficiency and identify the specific mutation causing the condition. It can also be used to screen family members for carrier status.

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