CPT® Code 81277

Cytogenomic neoplasia (genome-wide) microarray analysis, interrogation of genomic regions for copy number and loss-of-heterozygosity variants for chromosomal abnormalities

Cytogenomic microarray analysis (CMA) for neoplasia is a sophisticated laboratory technique utilized to detect and characterize genetic alterations associated with various hematological neoplasms, including conditions such as B-cell acute lymphoblastic leukemia. This procedure focuses on identifying clonal copy number imbalances and loss of heterozygosity variants, which are critical for diagnosing chromosomal abnormalities linked to blood cancers. The analysis begins with the extraction of DNA from the patient's peripheral blood or bone marrow, which is then labeled and hybridized to a microarray. This microarray contains probes that correspond to specific genomic regions, allowing for a comprehensive interrogation of the genome. After hybridization, the microarray is scanned to measure the intensity of the signals emitted, which are then compared to a reference dataset. This comparison enables the identification of copy number changes and regions exhibiting loss of heterozygosity. The results of the analysis are compiled into a report that provides essential information for the physician, aiding in diagnosis, prognosis, and therapeutic decision-making. Notably, CMA has the advantage of detecting genetic changes that may not be visible through traditional chromosomal analysis or fluorescence in situ hybridization (FISH) studies, making it a valuable tool in the assessment of complex genetic abnormalities across the genome.