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The CPT® Code 81442 pertains to a genomic sequence analysis panel specifically designed for the identification of Noonan spectrum disorders, which are also referred to as RASopathies. These disorders include Noonan syndrome, cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, and Noonan-like syndrome. RASopathies are a group of genetic conditions that arise from mutations affecting the mitogen-activated protein kinase (RAS/MAPK) signaling pathways. These pathways play a crucial role in cellular signal transduction, which is essential for normal embryonic and postnatal development. The mutations associated with RASopathies can disrupt the signaling cascade, leading to a variety of developmental issues across multiple body systems. The clinical manifestations of these disorders can be quite diverse, often presenting with overlapping phenotypical features that may include distinctive facial characteristics, congenital heart defects, skin abnormalities, neurocognitive delays, and an increased risk of certain cancers. The genomic sequence analysis panel mandated by this code must encompass the sequencing of at least 12 specific genes, which include BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1. The testing process involves extracting targeted gene segments from a whole blood specimen, which are then enriched through hybridization techniques. Following this, the captured regions are subjected to massively parallel sequencing to identify any gene mutations present. This genetic testing is instrumental in confirming clinical diagnoses in patients exhibiting symptoms of these disorders, distinguishing between hereditary and acquired forms of cardiomyopathy and arrhythmias, and identifying asymptomatic family members who may carry germline mutations associated with these conditions.
© Copyright 2025 Coding Ahead. All rights reserved.
The genomic sequence analysis panel represented by CPT® Code 81442 is indicated for the evaluation of patients who may be affected by Noonan spectrum disorders, which include the following conditions:
The procedure for conducting the genomic sequence analysis panel under CPT® Code 81442 involves several critical steps to ensure accurate identification of mutations associated with Noonan spectrum disorders. The first step is the collection of a whole blood specimen from the patient, which serves as the source of DNA for analysis. Following collection, the DNA is extracted from the blood sample. The next step involves the enrichment of targeted gene segments, specifically the exons of the genes of interest, through a process known as hybridization. This technique allows for the selective capture of the relevant gene regions that are to be sequenced. Once the targeted regions are enriched, the captured DNA undergoes massively parallel sequencing, a high-throughput method that enables the simultaneous sequencing of multiple DNA fragments. This advanced sequencing technology is crucial for detecting any mutations present within the specified genes, which include BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1. The data generated from the sequencing process is then analyzed to identify any genetic alterations that may be linked to the patient's clinical presentation. This comprehensive approach allows for a detailed understanding of the genetic underpinnings of the patient's condition, facilitating accurate diagnosis and management.
After the genomic sequence analysis is completed, the results are interpreted by a qualified healthcare professional, typically a geneticist or a genetic counselor. The findings can provide critical insights into the patient's diagnosis and guide further clinical management. Patients may receive counseling regarding the implications of the test results, including the potential for hereditary transmission of identified mutations. Additionally, family members may be offered testing to determine if they carry any familial germline mutations. It is important to note that the interpretation of results should consider the clinical context and the presence of symptoms consistent with Noonan spectrum disorders. Follow-up care may include monitoring for associated health issues, referrals to specialists, and discussions about management strategies tailored to the patient's specific needs.
| Short Descr | NOONAN SPECTRUM DISORDERS | Medium Descr | NOONAN SPECTRUM DISORDERS GEN SEQ ANALYS 12 GEN | Long Descr | Noonan spectrum disorders (eg, Noonan syndrome, cardio-facio-cutaneous syndrome, Costello syndrome, LEOPARD syndrome, Noonan-like syndrome), genomic sequence analysis panel, must include sequencing of at least 12 genes, including BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, and SOS1 | 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 |
| 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. |
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| 2016-01-01 | Added | Added |
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