Chromosome Analysis

Test description

Conventional cytogenetics (chromosome analysis) analyze the whole genome in a single assay. Developed over 50 years ago, this assay still plays a vital role in cancer diagnostics because it allows for simultaneous characterization of chromosome number and structure. This assay can provide diagnostic and prognostic information as well as be utilized to monitor response to therapy, disease progression, and treatment-related secondary malignancies.

Test details and complementary testing

  • Some chromosome alterations are too small or subtle to detect by Chromosome Analysis. Other testing, such as FISH or Microarray, may be indicated to further investigate chromosomal abnormalities.
  • Chromosome Analysis only provides information relating to the number and structure of chromosomes; it does not evaluate for single gene disorders.


  • Detects changes in chromosome number, including aneuploidy and triploidy
  • Characterizes both balanced and unbalanced structural rearrangements
  • Identifies large-scale deletions and duplications


  • Requires mitotic (dividing) cells from a fresh specimen
  • Limited resolution as compared to newer technologies such as microarray