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The CPT® Code 81249 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. A deficiency in this enzyme can lead to significant health issues, especially in certain populations, as it is predominantly found in 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, making it subject to X-linked inheritance patterns. G6PD deficiency can manifest in several clinical forms, including neonatal jaundice, acute hemolytic anemia, and chronic non-spherocytic hemolytic anemia. The severity of the deficiency is classified into four distinct classes, ranging from Class I, which indicates severe deficiency and chronic hemolytic anemia, to Class IV, which represents a mild deficiency with minimal clinical symptoms. Symptoms associated with G6PD deficiency include pale skin, jaundice, fatigue, dyspnea, tachycardia, and dark-colored urine. The gene analysis performed under this code is particularly useful for diagnosing G6PD deficiency in infants with unexplained jaundice, as well as in males of any age presenting with anemia or jaundice. Additionally, it can assess the carrier status in females who have 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 and familial variants using advanced techniques such as polymerase chain reaction (PCR) and bi-directional Sanger Sequencing Analysis. This comprehensive approach ensures accurate identification of G6PD variants, facilitating appropriate clinical management and intervention.
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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 and symptoms warrant the performance of this test:
The procedure for conducting the G6PD gene analysis involves several key steps to ensure accurate results. The following outlines the procedural steps:
After the gene analysis is completed, the results are interpreted by healthcare professionals to determine the presence of G6PD deficiency. Depending on the findings, appropriate clinical management strategies will be implemented. Patients diagnosed with G6PD deficiency may require education on avoiding triggers that can exacerbate their condition, such as certain foods (e.g., fava beans), medications, and infections. Follow-up care may also be necessary to monitor the patient's health and manage any symptoms associated with the deficiency. It is essential for healthcare providers to communicate the results effectively and provide guidance on lifestyle modifications to prevent complications related to G6PD deficiency.
| Short Descr | G6PD FULL GENE SEQUENCE | Medium Descr | G6PD GENE ANALYSIS FULL GENE SEQUENCE | Long Descr | G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; full gene sequence | 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. | 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. | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | GW | Service not related to the hospice patient's terminal condition | XS | Separate structure, a service that is distinct because it was performed on a separate organ/structure | 26 | Professional component: certain procedures are a combination of a physician or other qualified health care professional component and a technical component. when the physician or other qualified health care professional component is reported separately, the service may be identified by adding modifier 26 to the usual procedure number. |
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| 2018-01-01 | Added | Code Added. |
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