Chromosome Analysis, Products of Conception (POC) With Reflex to SNP Microarray (Reveal®)

This test is used to evaluate possible chromosomal abnormalities as cause of miscarriage. The SNP assay will detect chromosomal imbalance that could be associated with developmental delay/congenital anomalies. It provides detection of possible uniparental disomy of any chromosome, the percent and location of homozygosity, including the degree of identity by descent. It will also allow the detection of complete or partial molar pregnancies.

The microarray reflex is designed for specimens that fail to grow in culture. If tissue fails to grow, reflex to whole genome SNP microarray (Reveal®), targeting 2.695 million copy number and allele-specific genome sites, will be initiated. Please include clinical information, previous cytogenetic report or karyotype.

If prior Cell-free DNA/NIPT studies have been performed, include copy of the report.

Call 800-345-4363 if there are any questions.

Some products of conception may only contain maternal tissue. An option to confirm presence of fetal tissue before testing is available; see Maternal Cell Contamination [511402]. For the SNP assay, it does not detect balanced rearrangements, low-level mosaicism (<10%), marker chromosomes that only contain heterochromatin or tetraploidy.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Tissue culture following enzymatic digestion of tissue. Standard harvesting and G-banding procedures are used with 20 metaphases examined and two karyotypes prepared. If tissue fails to grow for cytogenetic analysis, SNP microarray analysis is performed with the remaining fresh tissue using the Cytoscan® HD platform, which uses more than 743,000 SNP probes and 1,953,000 NPCN probes with a median spacing of 0.88 kb. For specimens that have failed Cytoscan® HD or specimens that do not have enough DNA to run Cytoscan® HD, SNP microarray analysis is performed using the Oncoscan® FFPE platform. This platform has more than 220,000 SNP probes with a median spacing of 5.0 kb, within the majority of genes.