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Molecular genetic testing is a critical procedure that focuses on identifying specific mutations within the PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) gene. This testing employs targeted sequence analysis, particularly examining exons 12 and 18 located on chromosome 4. The PDGFRA gene plays a vital role in encoding a tyrosine kinase receptor protein, which is essential for the transmission of signals from the cell surface into the interior of the cell through a process known as signal transduction. This mechanism involves phosphorylation, which activates a series of proteins that are crucial for various cellular functions, including growth, proliferation, adhesion, migration, differentiation, and apoptosis. Mutations in the PDGFRA gene are predominantly linked to mesenchymal tumors, specifically gastrointestinal stromal tumors (GIST), which can occur in the stomach and small intestine. The purpose of conducting genetic testing for the PDGFRA gene is to pinpoint the exact mutation present in individuals diagnosed with cancer. This information is particularly important for assessing potential resistance to therapies such as imatinib or sunitinib, which are commonly used in the treatment of GISTs.
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The PDGFRA gene analysis is indicated for patients diagnosed with gastrointestinal stromal tumors (GIST) to determine the presence of specific mutations that may influence treatment options and therapeutic responses.
The procedure for PDGFRA gene analysis involves several key steps to ensure accurate identification of mutations. First, a sample is collected from the patient, which may include tumor tissue or blood. This sample is then processed in a laboratory setting where targeted sequence analysis is conducted. During this analysis, exons 12 and 18 of the PDGFRA gene are specifically examined for mutations. The laboratory utilizes advanced molecular techniques to amplify the DNA segments of interest, followed by sequencing to detect any alterations in the genetic code. The results of this analysis provide critical information regarding the specific mutation present, which can be used to guide treatment decisions, particularly in evaluating the potential resistance to therapies such as imatinib or sunitinib.
After the PDGFRA gene analysis is completed, the results are typically reviewed by a healthcare professional who will discuss the findings with the patient. Depending on the identified mutations, further treatment options may be considered, including the potential use of targeted therapies such as imatinib or sunitinib. Patients may also be monitored for any side effects or complications related to their treatment. It is essential for healthcare providers to ensure that patients understand the implications of the genetic testing results and how they may affect their treatment plan moving forward.
| Short Descr | PDGFRA GENE | Medium Descr | PDGFRA GENE ANALYS TARGETED SEQUENCE ANALYS | Long Descr | PDGFRA (platelet-derived growth factor receptor, alpha polypeptide) (eg, gastrointestinal stromal tumor [GIST]), gene analysis, targeted sequence analysis (eg, exons 12, 18) | 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 |
| 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. | GA | Waiver of liability statement issued as required by payer policy, individual case | GW | Service not related to the hospice patient's terminal condition | GZ | Item or service expected to be denied as not reasonable and necessary | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service |
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| 2016-01-01 | Added | Added |
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