CPT® Code 81412

Ashkenazi Jewish associated disorders (eg, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, Tay-Sachs disease), genomic sequence analysis panel, must include sequencing of at least 9 genes, including ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1

The CPT® Code 81412 pertains to a genomic sequence analysis panel specifically designed to identify Ashkenazi Jewish associated disorders. This panel is crucial for individuals of Ashkenazi Jewish descent, who are known to have a higher prevalence of certain autosomal recessive genetic disorders. The testing involves a comprehensive analysis of at least nine specific genes, which are known to be linked to various genetic conditions. These conditions include Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia group C, Gaucher disease, and Tay-Sachs disease. Each of these disorders has distinct genetic markers that can be identified through this testing, allowing for early diagnosis and management. The genes included in this panel are ASPA, BLM, CFTR, FANCC, GBA, HEXA, IKBKAP, MCOLN1, and SMPD1, each of which plays a critical role in various biological processes. For instance, mutations in the ASPA gene are associated with Canavan disease, while mutations in the CFTR gene are linked to cystic fibrosis. The panel's design reflects the unique genetic landscape of the Ashkenazi Jewish population, making it an essential tool for genetic testing and counseling in this demographic.