Chromosome Analysis, Routine Short Study (Blood)

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

3 weeks

CPT Code(s)

88230, 88261,88291

Cost

$530

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 Makayla Gunn

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two.   At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.  Then she suddenly stopped all of that.  At her 2 year old check-up, the pediatrician referred us to BabyNet, ...

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