Chromosome Analysis, Routine (POC)

Key Information

TAT:

6 weeks

Price:

$704

CPT Code(s):

88262, 88291, 88233

Test Code:

CCRP

Chromosome Analysis, Routine (POC)

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.

Please note that additional fees may apply if more than one tissue type is submitted. Please use a multiplier equal to the number of samples submitted for CPT Code 88233.

Clinical Information

Chromosome analysis on products of conception can help clarify if an atypical number of chromosomes might have contributed to a miscarriage, fetal demise, or stillbirth.

Technical Information

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.

Specimen Requirements

  • Using a sterile technique, obtain POC and place in a sterile transport container with tissue transport media or a sterile solution such as a balanced salt solution. DO NOT allow the specimen to come into contact with formalin or other fixatives if chromosome analysis is ordered as fixed tissue will not grow for chromosome analysis. Chromosome analysis cannot be performed on FFPE samples.

 

  • A maternal sample is recommended to accompany the POC sample for maternal cell contamination (MCC) studies. The preferred maternal sample type for MCC is 3-4ml of peripheral blood collected in an EDTA (purple top) tube. Additional accepted maternal sample types include extracted DNA or saliva. Blood and saliva kits are available by request.
  • Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
  • Saliva samples must be submitted in an approved saliva kit.

Transport Instructions

  • POC should be should kept at room temperature if transported immediately. If the specimen is not being immediately transported to the laboratory, it may be refrigerated. Do not freeze. The sample should be sent by courier or overnight mail to arrive at the laboratory within 24 hours.
  • The blood sample for MCC should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
  • Extracted DNA should be sent at room temperature via overnight delivery.
  • Saliva is stable at room temperature and can be delivered via overnight or ground shipping.

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