CPT® Code 81442

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

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.