Chromosome Analysis, Routine; Short Study (Blood)

Key Information

TAT:

21 days

Price:

$530

CPT Code(s):

88230, 88261, 88291

Test Code:

CBSS

Chromosome Analysis, Routine; Short Study (Blood)

A karyotype in a limited study of cells that can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements.

Clinical Information

Short study chromosome analysis may be considered for indications of recurrent pregnancy loss, disorders of sexual differentiation, a family history of a known translocation or rearrangement, or an increased suspicion of aneuploidy.

Technical 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 from G-banded preparations. 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.

Specimen Requirements

The accepted sample type is 3-4 ml of whole blood collected in a sodium heparin (green top) tube. For newborns and small infants, 2-3 ml of blood in a sodium heparin tube is acceptable. Blood kits are available by request.

Transport Instructions

Whole blood should be kept at room temperature and sent by courier or overnight shipping to arrive at the laboratory within 24 hours. Do not freeze or refrigerate the specimen.

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC