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Molecular genetic testing is a critical diagnostic tool used to identify specific mutations in the HFE gene that are associated with hereditary hemochromatosis, a condition characterized by excessive iron absorption from dietary sources. Hemochromatosis is classified as an iron overload disease, where the body accumulates excess iron, leading to potential damage to various organs and tissues. The HFE gene, located on chromosome 6, plays a significant role in regulating iron absorption in the intestines. When mutations occur in this gene, particularly in the common variants known as C282Y and H63D, the normal function of the HFE protein is disrupted. The HFE protein, which does not have an immunological role, fails to form a stable complex with beta-2-microglobulin due to the mutation, resulting in its degradation before it can be incorporated into the cell membrane. This malfunction leads to an erroneous signal of iron deficiency, prompting the intestines to increase iron absorption, thereby exacerbating the iron overload condition. Hereditary hemochromatosis follows an autosomal recessive inheritance pattern, meaning that individuals must inherit mutations from both parents to develop the disease. Those who inherit a mutation from only one parent are considered carriers and may not exhibit symptoms. The C282Y variant is particularly significant, as it is found in 60-90% of diagnosed cases and typically leads to more pronounced symptoms. In contrast, the H63D variant may present with milder or even asymptomatic conditions when homozygous. The accumulation of excess iron can lead to severe complications, particularly affecting the liver, pancreas, and heart. Therefore, molecular genetic testing is indicated for individuals exhibiting symptoms of hemochromatosis or those with a family history of the disease, facilitating early diagnosis and management of this potentially serious condition.
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The molecular genetic testing for the HFE gene is indicated in specific clinical scenarios, particularly when there are symptoms or a family history suggestive of hereditary hemochromatosis. The following conditions warrant testing:
The procedure for HFE gene analysis involves several key steps to ensure accurate identification of the common variants associated with hereditary hemochromatosis:
After the HFE gene analysis is completed, patients may receive counseling regarding the results, especially if mutations are identified. It is essential to discuss the implications of the findings, including potential health risks associated with hereditary hemochromatosis. Follow-up care may involve monitoring iron levels and assessing for any organ damage due to iron overload. Patients with confirmed mutations may require further evaluation and management strategies to mitigate the risks associated with the disease, including lifestyle modifications and potential therapeutic interventions.
| Short Descr | HFE GENE | Medium Descr | HFE HEMOCHROMATOSIS GENE ANAL COMMON VARIANTS | Long Descr | HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D) | 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 | GZ | Item or service expected to be denied as not reasonable and necessary | XS | Separate structure, a service that is distinct because it was performed on a separate organ/structure | GA | Waiver of liability statement issued as required by payer policy, individual case | 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. | 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. | 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. | 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. | GV | Attending physician not employed or paid under arrangement by the patient's hospice provider | 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 |
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| 2012-01-01 | Added | Added |
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