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Alternative Name
POC Cytogenetics, POC Karyotyping
Methodology
Cytogenetics
Test Description

Chromosome abnormalities account for nearly one-half of first trimester spontaneous miscarriages, with the most common abnormalities being Trisomy 16 (~19%), Trisomy 22 (~19%), Trisomy 21 (~12%), and monosomy X (~10%). Chromosome analysis performed on products of conception (POC) can provide insight into why a pregnancy loss may have occurred. In cases where POC chromosome analysis has shown a structural rearrangement of chromosomes, parental chromosome analysis follow-up studies are typically recommended. For more information on chromosome analysis, please refer to Constitutional Chromosome Analysis testing. POC Chromosome Analysis is performed by Genetics Associates, Inc.

Specimen Requirements
  • Fresh/Unfixed Tissue- Products of Conception (POC): Dissected chorionic villi or known fetal tissue(s) are preferred, but uterine contents or tissue of mixed fetal/maternal origin is acceptable and will be processed. Please include villi if sending tissue from a fetal demise. Place tissue in RPMI, note type(s) of tissue on test requisition, and send to our Nashville, TN facility. Please see our contact page for shipping address. Tissues placed in formalin are unacceptable for cytogenetics.
  • POC cytogenetics only: At least 50-100 mg villi or 1-1.5 cm3 fetal tissue(s).  
  • POC cytogenetics with reflex to microarray: Same. At least 50-100 mg villi or 1-1.5 cm3 fetal tissue(s). 
  • Note: Please exclude biopsy needles, blades, and other foreign objects from transport tubes. These can compromise specimen viability and yield, and create hazards for employees.
Storage and Transportation

Do not freeze. Use cold pack for transport, make sure cold pack is not in direct contact with specimen.

CPT Code(s)*
Standard study: 88305, 88233x2, 88261, 88267, 88280, 88291.  Mosaicism study: 88305, 88233x2, 88263, 88291. Culture failure: 88233. Add 81229 if reflexed to microarray.
Turnaround Time

POC without array: 14-21 days | POC with reflex to array: 28-35 days

References
  1. Soler A, Morales C, Mademont-Soler I, et al. Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes. Cytogenet Genome Res. 2017;152(2):81-89. doi:10.1159/000477707

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.