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Chromosome Analysis, Routine; Short Study (Amniotic Fluid)

Test Information

Short study chromosome analysis includes routine karyotyping using G-banding, but fewer cells are analyzed than with routine karyotyping. For short study chromosome analysis, a minimum of 5 cells are counted and a minimum of 2 cells are analyzed for chromosomal abnormalities. Short study chromosome analysis can be used to complement other methods such as microarray to detect certain rearrangements that can only be identified by karyotype. A karyotype can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements.

Turnaround Time

14 days

CPT Code(s)

88235, 88261, 88280, 88291

Cost

$692

Specimen Requirements

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.

Transport Instructions

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.

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Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC