CPT® Code 81247

The CPT® Code 81247 pertains to the gene analysis of glucose-6-phosphate dehydrogenase (G6PD), which is crucial for understanding various hematological conditions, particularly those related to hemolytic anemia and jaundice. G6PD is an enzyme that plays a significant role in the metabolic pathway of red blood cells, aiding in carbohydrate processing and providing protection against oxidative stress. The deficiency of this enzyme is predominantly found in males of African, Asian, Mediterranean, and Middle Eastern descent, highlighting its genetic and demographic significance. The G6PD gene is located on the long (q) arm of the X chromosome at position 28, which is essential for the synthesis of the G6PD enzyme. Individuals with G6PD deficiency may experience a range of clinical manifestations, including neonatal jaundice, acute hemolytic anemia, and chronic non-spherocytic hemolytic anemia. The deficiency can be triggered by various factors such as certain foods (notably fava beans), medications, and infections. Symptoms associated with G6PD deficiency include pale skin, jaundice, fatigue, dyspnea, tachycardia, and dark-colored urine, which can significantly impact the quality of life. The classification of G6PD deficiency is divided into four classes based on enzyme activity levels: Class I indicates severe deficiency with chronic non-spherocytic hemolytic anemia; Class II shows less than 10% normal enzyme activity with acute hemolytic anemia; Class III represents mild to moderate enzyme activity (10-60% of normal function); and Class IV indicates a very mild deficiency with more than 60% enzyme activity and minimal clinical symptoms. The gene analysis performed under this code is particularly useful for diagnosing G6PD deficiency in infants with unexplained jaundice, males of any age presenting with anemia and/or jaundice, and for assessing the carrier status in females with a family history of G6PD deficiency. The testing process involves obtaining a blood sample, which can be collected through various means, and analyzing it for common variants such as A and A- using advanced techniques like polymerase chain reaction (PCR) with allele-specific hydrolysis probes (TaqMAN) and fluorescent monitoring. Additionally, full gene sequence analysis can be conducted using bi-directional Sanger Sequencing Analysis, ensuring comprehensive evaluation of the G6PD gene.