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The CPT® Code 81255 pertains to the molecular genetic testing of the HEXA gene, specifically analyzing common variants associated with Tay-Sachs disease (TSD). Tay-Sachs disease is classified as a lysosomal storage disorder, which is characterized by the accumulation of GM2 ganglioside due to a deficiency or near absence of the beta-hexosaminidase A enzyme. This accumulation occurs in the nerve cells of the brain, leading to premature cell death and a progressive decline in mental and physical abilities. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit mutations in the HEXA gene from both parents to develop the disease. Those who inherit a mutation from only one parent are considered carriers and typically do not exhibit symptoms. The HEXA gene is located on chromosome 15, and over 100 mutations have been identified, with the most common variants being 1278insTATC and 1421+1G>C. The former variant is predominantly found in the Cajun population of Louisiana and among individuals of Ashkenazi Jewish descent. When individuals are homozygous for these mutations, they may develop Acute Infantile TSD, which manifests between 3 to 6 months of age, leading to severe neurological decline and typically resulting in death by age 4. Additionally, the G269S mutation, when paired with certain null alleles, can lead to Subacute Juvenile or Adult/Late Onset TSD, which presents with varying symptoms and has different prognoses. Molecular genetic testing is crucial for identifying these mutations, distinguishing between pseudo deficiency alleles and pathogenic mutations, and providing genetic counseling to affected individuals and their families.
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The molecular genetic testing for the HEXA gene analysis is indicated for the following conditions:
The procedure for conducting the HEXA gene analysis involves several key steps:
After the HEXA gene analysis is completed, individuals may receive genetic counseling based on the results. This counseling is essential for understanding the implications of the test results, particularly for those who are found to be carriers or affected by Tay-Sachs disease. It may involve discussions about family planning options, the risk of passing the condition to offspring, and the potential need for further testing for family members. Additionally, individuals diagnosed with Tay-Sachs disease may require supportive care and management of symptoms as they arise, given the progressive nature of the condition.
| Short Descr | HEXA GENE | Medium Descr | HEXA GENE ANALYSIS COMMON VARIANTS | Long Descr | HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S) | 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. | 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. | GA | Waiver of liability statement issued as required by payer policy, individual case | XS | Separate structure, a service that is distinct because it was performed on a separate organ/structure | 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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| 2012-01-01 | Added | Added |
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