Chromosome Analysis, Routine (Solid Tissue/POC)

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

6 weeks

CPT Code(s)

88233 (x number of tissue samples submitted), 88262, 88291

Cost

$704 (Additional fees may apply if more than one tissue type is submitted)

Solid Tissue (such as skin biopsy, products of conception, or fetal tissue)

Fresh tissue specimens should be kept at room temperature if it will be transported immediately. If specimen is not being immediately transported to the laboratory, it may be refrigerated; do not freeze. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day. Chromosome analysis cannot be performed on FFPE samples.