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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.
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The gene analysis for glucose-6-phosphate dehydrogenase (G6PD) deficiency is indicated for several specific clinical scenarios, particularly in populations at risk for this enzyme deficiency. The following conditions warrant the performance of this test:
The procedure for conducting the G6PD gene analysis involves several key steps to ensure accurate identification of known familial variants. The process begins with the collection of a blood sample, which is typically obtained through a separate reportable procedure. This sample is crucial as it serves as the basis for the subsequent analysis. Once the sample is collected, it is subjected to testing for common variants, such as A and A-, as well as known familial variants. This is accomplished using polymerase chain reaction (PCR) techniques, specifically employing allele-specific hydrolysis probes (TaqMAN) and fluorescent monitoring to detect the presence of these variants accurately.
After the completion of the G6PD gene analysis, the results are typically reviewed and interpreted by a qualified healthcare professional. It is essential to communicate the findings to the patient and their family, especially in cases where a diagnosis of G6PD deficiency is confirmed. Patients may require counseling regarding the implications of the results, particularly concerning lifestyle modifications and avoidance of certain triggers that could exacerbate hemolytic anemia, such as specific foods (e.g., fava beans) and certain medications. Follow-up care may also be necessary to monitor the patient's health status and manage any symptoms associated with G6PD deficiency. Additionally, genetic counseling may be recommended for family members to understand their risk of being carriers or affected by the condition.
| Short Descr | G6PD KNOWN FAMILIAL VARIANT | Medium Descr | G6PD GENE ANALYSIS KNOWN FAMILIAL VARIANTS | Long Descr | G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; known familial variant(s) | Status Code | Statutory Exclusion (from MPFS, may be paid under other methodologies) | Global Days | XXX - Global Concept Does Not Apply | PC/TC Indicator (26, TC) | 9 - Not Applicable | Multiple Procedures (51) | 9 - Concept does not apply. | Bilateral Surgery (50) | 9 - Concept does not apply. | Physician Supervisions | 09 - Concept does not apply. | Assistant Surgeon (80, 82) | 9 - Concept does not apply. | Co-Surgeons (62) | 9 - Concept does not apply. | Team Surgery (66) | 9 - Concept does not apply. | Diagnostic Imaging Family | 99 - Concept Does Not Apply | CLIA Waived (QW) | No | APC Status Indicator | Service Paid under Fee Schedule or Payment System other than OPPS | Type of Service (TOS) | 5 - Diagnostic Laboratory | Berenson-Eggers TOS (BETOS) | none | MUE | 1 |
| GW | Service not related to the hospice patient's terminal condition |
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| 2018-01-01 | Added | Code Added. |
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