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The CPT® Code 81270 refers to the molecular genetic testing specifically aimed at identifying a mutation in the JAK2 (Janus kinase 2) gene, particularly the p.Val617Phe (V617F) variant. This gene plays a crucial role in producing a protein that is integral to the JAK/STAT signaling pathway, which is responsible for transmitting chemical signals from outside the cell to the nucleus, thereby influencing various cellular functions, including the regulation of blood cell production. The JAK2 gene is located on chromosome 9 and is classified as a somatic gene mutation, meaning it is an acquired mutation rather than one inherited from parents. The presence of the JAK2 mutation is notably prevalent in individuals diagnosed with polycythemia vera, a myeloproliferative disorder characterized by the excessive production of blood cells. Specifically, the V617F variant involves a substitution of the amino acid valine with phenylalanine at position 617, resulting in the continuous activation of the JAK2 protein. This persistent activation leads to the overproduction of white blood cells, red blood cells, and platelets within the bone marrow, which can cause complications such as abnormal blood clotting, a sluggish circulatory rate, and reduced oxygen delivery to vital organs. Additionally, this mutation is also associated with other conditions such as essential thrombocytopenia, which is marked by elevated platelet levels, and primary myelofibrosis, characterized by fibrotic changes in the bone marrow. Therefore, molecular genetic testing for the JAK2 mutation is indicated for individuals exhibiting symptoms related to myeloproliferative disorders (MPD), aiding in the diagnosis and management of these conditions.
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The molecular genetic testing for the JAK2 gene analysis is indicated for individuals who exhibit symptoms associated with myeloproliferative disorders (MPD). These symptoms may include, but are not limited to, the following:
The procedure for JAK2 gene analysis involves several key steps to ensure accurate identification of the V617F variant. The process begins with the collection of a blood sample from the patient, which is then processed in a laboratory setting. The laboratory technicians isolate the DNA from the collected blood cells. Following DNA extraction, polymerase chain reaction (PCR) techniques are employed to amplify the specific region of the JAK2 gene where the V617F mutation is located. This amplification allows for sufficient quantities of the target DNA to be analyzed. Once the DNA is amplified, sequencing or other molecular techniques are utilized to detect the presence of the V617F variant. The results of the analysis are then interpreted by qualified laboratory personnel, and a report is generated detailing the findings. This report is subsequently provided to the healthcare provider, who will use the information to guide clinical decision-making regarding the patient's diagnosis and treatment options.
After the JAK2 gene analysis is completed, the healthcare provider will review the results with the patient. If the V617F mutation is detected, it may confirm a diagnosis of a myeloproliferative disorder, which can influence treatment strategies. Patients may require ongoing monitoring and management based on their specific condition and symptoms. It is essential for healthcare providers to discuss the implications of the test results with the patient, including potential treatment options and the importance of follow-up care. Additionally, patients may be advised on lifestyle modifications and symptom management strategies to address any complications arising from their condition.
| Short Descr | JAK2 GENE | Medium Descr | JAK2 GENE ANALYSIS P.VAL617PHE VARIANT | Long Descr | JAK2 (Janus kinase 2) (eg, myeloproliferative disorder) gene analysis, p.Val617Phe (V617F) variant | 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) | T1H - Lab tests - other (non-Medicare fee schedule) | MUE | 1 | CCS Clinical Classification | 234 - Pathology |
| 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. | GZ | Item or service expected to be denied as not reasonable and necessary | GA | Waiver of liability statement issued as required by payer policy, individual case | 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 | 91 | Repeat clinical diagnostic laboratory test: in the course of treatment of the patient, it may be necessary to repeat the same laboratory test on the same day to obtain subsequent (multiple) test results. under these circumstances, the laboratory test performed can be identified by its usual procedure number and the addition of modifier 91. note: this modifier may not be used when tests are rerun to confirm initial results; due to testing problems with specimens or equipment; or for any other reason when a normal, one-time, reportable result is all that is required. this modifier may not be used when other code(s) describe a series of test results (eg, glucose tolerance tests, evocative/suppression testing). this modifier may only be used for laboratory test(s) performed more than once on the same day on the same patient. | 76 | Repeat procedure or service by same physician or other qualified health care professional: it may be necessary to indicate that a procedure or service was repeated by the same physician or other qualified health care professional subsequent to the original procedure or service. this circumstance may be reported by adding modifier 76 to the repeated procedure or service. note: this modifier should not be appended to an e/m service. | GW | Service not related to the hospice patient's terminal condition | GX | Notice of liability issued, voluntary under payer policy | GY | Item or service statutorily excluded, does not meet the definition of any medicare benefit or, for non-medicare insurers, is not a contract benefit | Q1 | Routine clinical service provided in a clinical research study that is in an approved clinical research study | Q6 | Service furnished under a fee-for-time compensation arrangement by a substitute physician or by a substitute physical therapist furnishing outpatient physical therapy services in a health professional shortage area, a medically underserved area, or a rural area |
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| 2012-01-01 | Added | Added |
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