Chromosome Analysis, Routine (Blood)

Test Information

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, Modifier 22

Cost

$602

Specimen Requirements

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.

Transport Instructions

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.

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
Kellie Walden, MS, CGC

Chromosome, Chromosome Studies, Cytogenetic Testing
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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