CPT® Code 81432

Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer, hereditary pancreatic cancer, hereditary prostate cancer), genomic sequence analysis panel, 5 or more genes, interrogation for sequence variants and copy number variants

The CPT® Code 81432 pertains to molecular genetic testing specifically designed to identify hereditary breast cancer-related disorders. These disorders include hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer, hereditary pancreatic cancer, and hereditary prostate cancer. The procedure utilizes a genomic sequence analysis panel that interrogates five or more genes, which may include notable genes such as BRCA1, BRCA2, CDH1, MLH1, MSH2, MSH6, PALB2, PTEN, STK11, and TP53. The testing process begins with the extraction of genetic material, or DNA, from a specimen of whole blood. This DNA is then fragmented through a method known as sonication. Following fragmentation, the targeted gene segments are enriched using capture hybridization techniques. The enriched segments undergo massively parallel sequencing and/or microarray analysis, which allows for a comprehensive examination of the target regions. This analysis is crucial for detecting gene mutations by comparing the gene segments and identifying any similarities or differences. The testing can reveal genetic markers and variations within the genetic sequence, including point mutations or single nucleotide polymorphisms. Various techniques are employed to interrogate sequence variants or copy number variants, which assist in identifying large structural rearrangements and interpreting the potential effects of these variants on proteins, amino acids, or clinical phenotypes.