Trisomy FISH Screen (13,18,21,X,Y) (Chorionic Villus Sampling (CVS))

Technical Information

Fluorescence in situ hybridization (FISH) is a molecular cytogenetic technique in which fluorescently labeled DNA probes are hybridized to interphase nuclei. FISH should be used in conjunction with G-banded chromosome analysis. FISH can be performed upon request for rapid aneuploidy detection of chromosomes 13, 18, 21, X, and Y in a prenatal sample.

Specimen Requirements

• Chorionic Villus Sample (CVS) is the specimen type for this test. Obtain 20-30 mg of chorionic villus specimen by either transabdominal or transcervical method.
• If sending cultured flasks, 2x T25 confluent flasks are required.

 

• A maternal sample is required to accompany the prenatal 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

• The CVS specimen should be kept at room temperature and should be sent by courier or overnight mail to arrive at the laboratory the next day. Do not freeze or refrigerate the specimen.
• 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.