Chromosome Analysis, Routine; Short Study (POC)

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

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

• 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 specimen 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.