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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.
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The gene analysis for glucose-6-phosphate dehydrogenase (G6PD) is indicated for several specific clinical scenarios, particularly in relation to hemolytic anemia and jaundice. The following conditions warrant the performance of this test:
The procedure for conducting the G6PD gene analysis involves several key steps to ensure accurate results. The process begins with the collection of a blood sample, which is the most common specimen type used for testing. This sample can be obtained through venipuncture and may also be collected from alternative sources such as serum, bone marrow, amniocytes, amniotic fluid, chorionic villi, cord blood, fetal blood, and products of conception, depending on the clinical context and patient needs.
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 discuss any necessary follow-up actions or treatments based on the results. Patients diagnosed with G6PD deficiency may require education on avoiding triggers that can exacerbate their condition, such as certain foods and medications. Additionally, ongoing monitoring and management may be necessary for individuals with significant enzyme deficiency to prevent complications associated with hemolytic anemia. Overall, the post-procedure care focuses on ensuring that patients understand their diagnosis and the implications for their health and lifestyle.
| Short Descr | G6PD GENE ALYS CMN VARIANT | Medium Descr | G6PD GENE ANALYSIS COMMON VARIANTS | Long Descr | G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; common variant(s) (eg, A, A-) | 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 |
| 90 | Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number. | XS | Separate structure, a service that is distinct because it was performed on a separate organ/structure | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | 59 | Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25. | 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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