CPT® Code 88272

The CPT® Code 88272 refers to a specific laboratory test that focuses on molecular cytogenetics through the technique of chromosomal in situ hybridization. This procedure is designed to analyze a sample of 3-5 cells, which may be derived from blood or bone marrow, to identify chromosomal derivatives and markers, as well as microdeletions. Molecular cytogenetics is a branch of genetics that studies the structure and function of chromosomes, including their abnormalities and variations within the genome. The analysis performed using this code is crucial for detecting specific chromosomal abnormalities that can be associated with various genetic disorders. The test involves obtaining a blood sample through a venipuncture or a bone marrow aspiration, both of which are separately reportable procedures. The derivatives and markers that may be identified include small supernumerary marker chromosomes (sSMCs) and chromosomal exchange materials, which can be detected through G-banded chromosome analysis. Additionally, microdeletions, defined as small chromosomal deletions of less than 5 megabases (Mb) that may involve one or more genes, are often linked to multiple congenital anomalies. The chromosomal in situ hybridization analysis can help identify several genetic conditions, including but not limited to Angelman syndrome, Prader-Willi syndrome, and Williams syndrome, among others. This code is specifically utilized when the analysis is limited to 3-5 cells, while a different code, 88273, is designated for the analysis of 10-30 cells for microdeletions.