CPT® Code 81248

The CPT® Code 81248 pertains to the gene analysis of glucose-6-phosphate dehydrogenase (G6PD), specifically focusing on known familial variants. G6PD is an essential enzyme that plays a critical role in the metabolic processes of red blood cells, particularly in protecting them from oxidative stress and facilitating carbohydrate processing. Deficiency in this enzyme can lead to various health issues, including hemolytic anemia and jaundice, particularly in certain populations such as males of African, Asian, Mediterranean, and Middle Eastern descent. The G6PD gene is located on the long (q) arm of the X chromosome at position 28, which is significant as it explains the gender-specific prevalence of the deficiency. Individuals with G6PD deficiency may experience a range of symptoms, including pale skin, jaundice, fatigue, dyspnea (shortness of breath), tachycardia (rapid heartbeat), and dark-colored urine. The deficiency is classified into four distinct classes based on the severity of enzyme activity: 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), and Class IV indicates a very mild deficiency with more than 60% enzyme activity and minimal clinical symptoms. This gene analysis is particularly useful for diagnosing G6PD deficiency in infants who present with unexplained and persistent jaundice, as well as in males of any age who exhibit symptoms of anemia and/or jaundice. Additionally, it can be employed to assess the carrier status of females who have a family history of G6PD deficiency. The testing process involves obtaining a blood sample, which is typically collected through a separate reportable procedure. The analysis focuses on identifying common variants, such as A and A-, and known familial variants using advanced techniques like polymerase chain reaction (PCR) with allele-specific hydrolysis probes (TaqMAN) and fluorescent monitoring. For comprehensive evaluation, full gene sequence analysis may also be conducted using bi-directional Sanger Sequencing Analysis. Various biological samples can be utilized for this test, including peripheral whole blood, serum, bone marrow, amniocytes, amniotic fluid, chorionic villi, cord blood, fetal blood, and products of conception.