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The CPT® Code 81242 pertains to the molecular genetic testing aimed at identifying a specific mutation in the FANCC (Fanconi anemia, complementation group C) gene, which is associated with Fanconi anemia, type C. This condition is an autosomal recessive inherited disorder caused by mutations in the FANCC gene located on chromosome 9 at position 22,3. Individuals who inherit mutations from both parents are at risk of developing Fanconi anemia, while those who inherit the mutation from only one parent become carriers of the disease. The IVS4+4A>T variant is particularly prevalent among individuals of Ashkenazi Jewish descent, where the manifestations of the disease may be more pronounced. The FANCC gene plays a critical role in cellular processes, including delaying apoptosis (the programmed cell death) and facilitating DNA repair and recombination. When mutations occur in this gene, it leads to significant cellular dysfunction, characterized by cytogenetic instability, hypersensitivity to DNA-damaging agents, and defective DNA repair mechanisms. As a result, individuals with Fanconi anemia often experience severe health complications, including pancytopenia—a reduction in red blood cells, white blood cells, and platelets—and a heightened risk of developing malignancies. The average lifespan of individuals affected by this condition is notably reduced, typically ranging from 20 to 30 years. Additionally, Fanconi anemia is frequently associated with congenital anomalies, which may include heart, kidney, and skeletal defects, as well as distinctive skin pigmentation changes. The necessity for molecular genetic testing arises in cases where individuals exhibit symptoms indicative of Fanconi anemia or have a family history of the disorder, thereby facilitating early diagnosis and management of the condition.
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The molecular genetic testing for the FANCC gene is indicated in specific clinical scenarios, particularly when there are symptoms or a family history suggestive of Fanconi anemia. The following conditions warrant testing:
The procedure for molecular genetic testing of the FANCC gene involves several key steps to ensure accurate identification of the specific mutation. The following procedural steps are typically followed:
After the molecular genetic testing for the FANCC gene is completed, individuals may require follow-up consultations to discuss the results and their implications. If a mutation is identified, healthcare providers may recommend additional monitoring for potential health issues associated with Fanconi anemia, such as regular blood tests to check for signs of pancytopenia or screenings for malignancies. Genetic counseling may also be advised for the individual and their family members to understand the inheritance patterns, risks, and management options related to the condition. It is essential for individuals with a confirmed diagnosis to receive appropriate medical care and support to manage the symptoms and complications associated with Fanconi anemia.
| Short Descr | FANCC GENE | Medium Descr | FANCC GENE ANALYSIS COMMON VARIANT | Long Descr | FANCC (Fanconi anemia, complementation group C) (eg, Fanconi anemia, type C) gene analysis, common variant (eg, IVS4+4A>T) | 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. | 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 | GW | Service not related to the hospice patient's terminal condition | 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. | 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. | 99 | Multiple modifiers: under certain circumstances 2 or more modifiers may be necessary to completely delineate a service. in such situations modifier 99 should be added to the basic procedure, and other applicable modifiers may be listed as part of the description of the service. | GA | Waiver of liability statement issued as required by payer policy, individual case | GV | Attending physician not employed or paid under arrangement by the patient's hospice provider |
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| 2012-01-01 | Added | Added |
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