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Molecular genetic testing is conducted to identify abnormal, expanded alleles on the PABPN1 (poly[A] binding protein nuclear 1) gene, which is associated with oculopharyngeal muscular dystrophy (OPMD), a degenerative neuromuscular disorder. OPMD is characterized by muscle weakness affecting various areas, including the eyelids, throat, shoulders, hips, and leg muscles, commonly referred to as limb-girdle muscles. The PABPN1 gene is situated on the long (q) arm of chromosome 14 at position 11.2 (14q11.2) and encodes a protein that plays a crucial role in mRNA processing. This protein binds to the end of the mRNA molecule, facilitating the formation of a polyalanine chain consisting of 10 copies of the amino acid alanine. In individuals with OPMD, the PABPN1 gene typically exhibits an elongated (expanded) polyalanine chain, with most affected individuals having between 11 to 18 alanine copies. The length of this polyalanine chain is directly correlated with the age of onset for symptoms; for instance, individuals with 11 copies generally begin to experience symptoms around the age of 70, while those with 13 copies may show symptoms by age 60, and those with 16 to 18 copies often present symptoms by age 50. In cases where both copies of the gene are mutated, symptoms can manifest as early as age 30, leading to a range of issues including muscle weakness, nerve function disturbances, neuropathy, neurological complications, and cognitive decline. The CPT® Code 81312 specifically reports the PABPN1 gene analysis aimed at evaluating and detecting these expanded alleles.
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The PABPN1 gene analysis is indicated for the evaluation of individuals suspected of having oculopharyngeal muscular dystrophy (OPMD). This testing is particularly relevant for patients presenting with symptoms such as:
The procedure for PABPN1 gene analysis involves several key steps to ensure accurate detection of expanded alleles:
After the PABPN1 gene analysis, patients may receive counseling regarding the results, especially if expanded alleles are detected. This counseling can include information about the implications of the findings, potential symptoms, and management options for OPMD. Follow-up appointments may be necessary to discuss any further testing or interventions that may be required based on the results. Additionally, healthcare providers may recommend monitoring for symptoms associated with OPMD, as early detection can aid in managing the condition effectively.
| Short Descr | PABPN1 GENE DETC ABNOR ALLEL | Medium Descr | PABPN1 GENE ANALYSIS EVAL DETC ABNORMAL ALLELES | Long Descr | PABPN1 (poly[A] binding protein nuclear 1) (eg, oculopharyngeal muscular dystrophy) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | 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) | none | 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. | 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. | 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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| 2019-01-01 | Added | Added |
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