Chromosome Analysis, Routine (Blood)

Chromosome analysis is an important component in the diagnosis and evaluation of genetic disorders. Chromosome abnormalities in which there is too much or too little genetic material can result in congenital malformations, intellectual disability, and aberrant sexual differentiation. Chromosome analysis can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements. For routine chromosome analysis a minimum of 20 cells are counted to determine the modal number, and a minimum of 5 cells are analyzed for chromosomal abnormalities from G-banded preparations.

Turnaround Time

3 weeks

CPT Code(s)

88230, 88262, 88291

Cost

$602

5-7 ml of whole blood in a green top (sodium heparin) tube is needed for chromosome analysis. For newborns and small infants, 2-3 ml of blood in a sodium heparin, green top is acceptable.

The specimen should be kept at room temperature and delivered via overnight shipping. Blood samples need to arrive to the lab within 24 hours of blood draw. Do not freeze the specimen.