Chromosome Analysis, Routine (Amniotic Fluid)

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

14 days

CPT Code(s)

88235, 88267, 88280, 88285(x5), 88291

Cost

$992

This test can be performed from direct amniotic fluid or on cultured amniocytes. If sending direct fluid for microarray only, 10-20 ml of amniotic fluid is requested. Chromosomes and FISH will require an additional 10-15 ml of fluid. If sending cultured flasks, 2x T25 confluent flasks are required. Parental samples are recommended to accompany prenatal specimen. 4-5 ml of peripheral blood should be collected on each parent in an EDTA (lavender top) tube. Additional specimen types include: saliva and extracted DNA.

Amniotic fluid should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory the next day.