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Molecular genetic testing is a critical procedure used to identify specific mutations within the F5 (coagulation Factor V) gene that are associated with hereditary hypercoagulability. The focus of this testing is on the Leiden variant, which is characterized by a particular mutation known as c.1601G>A or pArg534Gln. This mutation results in the inactivation of Factor V by activated Protein C (APC), a key component in the regulation of the clotting cascade. Factor V serves as a cofactor that facilitates the activation of Factor X, which subsequently activates thrombin. Thrombin plays a vital role in converting fibrinogen into fibrin, thereby forming a clot. However, when the F5 gene is mutated, Factor V remains in an active state, leading to an overproduction of thrombin and an excess of fibrin, which ultimately results in hypercoagulation or an increased tendency to form clots. The Leiden variant is classified as an autosomal dominant trait, meaning that the presence of just one mutated gene (heterozygous) can increase an individual's risk of developing venous thrombosis, particularly in the lower extremities. This variant is notably prevalent among the Eurasian population, with approximately 5% of Caucasians in North America carrying the heterozygous mutation and about 1 in 5000 individuals possessing the homozygous mutation. In cases of homozygous mutations, women may face heightened risks of venous thrombosis when using oral contraceptives, as well as an increased likelihood of adverse pregnancy outcomes such as miscarriage, stillbirth, fetal growth retardation, and placental abruption. Consequently, molecular genetic testing is recommended for women with a history of infertility or fetal loss, as well as for both men and women who have experienced deep vein thrombosis or pulmonary emboli.
© Copyright 2025 Coding Ahead. All rights reserved.
The molecular genetic testing for the F5 (coagulation Factor V) gene analysis, specifically for the Leiden variant, is indicated in the following scenarios:
The procedure for conducting the F5 gene analysis involves several key steps:
After the molecular genetic testing for the F5 gene analysis, patients may receive counseling regarding the results and their implications. If the Leiden variant is identified, healthcare providers may discuss preventive measures and management strategies to reduce the risk of thrombotic events. This may include lifestyle modifications, monitoring for symptoms of thrombosis, and potential pharmacological interventions. Additionally, patients with a positive result may be advised on the implications for family members, as the condition is inherited in an autosomal dominant manner. Follow-up appointments may be scheduled to monitor the patient's health and address any concerns related to the findings of the genetic test.
| Short Descr | F5 GENE | Medium Descr | F5 COAGULATION FACTOR V ANAL LEIDEN VARIANT | Long Descr | F5 (coagulation factor V) (eg, hereditary hypercoagulability) gene analysis, Leiden 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. | 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 | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | XS | Separate structure, a service that is distinct because it was performed on a separate organ/structure | GZ | Item or service expected to be denied as not reasonable and necessary | 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. | 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. | 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 | SY | Persons who are in close contact with member of high-risk population (use only with codes for immunization) |
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| 2014-01-01 | Changed | Code description changed. |
| 2012-01-01 | Added | Added |
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