CPT® Code 81410

Aortic dysfunction or dilation (eg, Marfan syndrome, Loeys Dietz syndrome, Ehler Danlos syndrome type IV, arterial tortuosity syndrome); genomic sequence analysis panel, must include sequencing of at least 9 genes, including FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK

The CPT® Code 81410 pertains to a genomic sequence analysis panel specifically designed to assess aortic dysfunction or dilation associated with various genetic syndromes. This panel is crucial for identifying mutations in at least nine specific genes that are linked to conditions such as Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome type IV, and arterial tortuosity syndrome. The genes included in this analysis are FBN1, TGFBR1, TGFBR2, COL3A1, MYH11, ACTA2, SLC2A10, SMAD3, and MYLK. The molecular genetic testing performed under this code aims to establish a medical diagnosis in patients who exhibit cardiovascular symptoms and skeletal manifestations, which may include craniofacial anomalies. Additionally, this testing can help identify carriers of these genetic conditions within families, thereby facilitating informed medical management and genetic counseling. The process involves obtaining a blood sample through a venipuncture, which is separately reportable, and analyzing the sample for gene mutations using advanced techniques such as next-generation sequencing and copy number variant analysis. Confirmation of findings may be achieved through Sanger sequencing or droplet digital polymerase chain reaction. Furthermore, a duplication/deletion analysis panel for specific genes is conducted on isolated DNA from whole blood, utilizing a comparative genomic hybridization (CGH) array to detect precise deletions or duplications across the genomic regions of interest.