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

Tissue, skin, ovarian biopsy, products of conception, placental biopsy

2 to 4 mm³

Sterile container containing sterile Ringer's lactate or Hanks' balanced salt solution or transport media provided by the cytogenetic laboratory; do not use urine containers for shipping.

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.

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.