Test Name
Chromosome Analysis Peripherial Blood (Constitutional)
Test Code
CYTO PB
Synonyms
Chromosome analysis, cytogenetic analysis, karyotyping
Associations
Numerical and structural chromosomal abnormalities associated with constitutional disease
CPT Codes
By report: 88230, 88262, 88289, 88291
Turnaround Time
7
Specimen Requirements
5 mL sodium heparin tube 1 mL (newborn blood) 2 mL (percutaneous umbilical blood) Fixed cytogenetically prepared cells in sterile centrifuge tube with 3:1, Methanol:Acetic Acid. Pellet must be visible for the volume part and the medium part 3:1, Methanol:Acetic Acid.
Specimen Stability
4°C to 25°C, specimens (peripheral blood) are stable up to 72 hours Fixed cell pellets are stable for years when stored at -28 °C to -15 °C
Storage & Handling
4°C to 25°C during transit, but specimens may be transported on refrigerated gel packs. Do not allow the gel pack to come in contact with the specimen. Do not freeze. Extreme temperatures should be avoided.
Causes for Rejections
Clotted specimen; Specimen exposed to extreme temperature; Anticoagulant toxic to cells; Insufficient number of cells
Description
Cytogenetic analysis of peripheral blood lymphocytes is performed to detect numerical or structural chromosome abnormalities. There are many indications for performing chromosome studies. These include multiple congenital abnormalities, mental retardation
References
- Nussbaum et al. (2001). Thompson and Thompson: Genetics in Medicine. WB Saunders: Philadelphia, Pennsylvania.
