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

CPT Contact CPT coding department at 800-222-7566, ext 6-8400. If reflex testing is performed, concomitant CPT codes/charges will apply.

Test Details

Use

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.

Special Instructions

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 NIPT studies have been performed, include copy of the report.

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

Test Includes

Chromosome analysis, SNP microarray reflex

Limitations

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.

Methodology

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.

Related Documents

Specimen Requirements

Information on collection, storage, and volume

Specimen

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

Volume

2 to 4 mm³

Container

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.

Storage Instructions

Refrigerate; do not freeze.

Causes for Rejection

Gross contamination; necrotic tissue; specimen in fixative

Collection

Aseptically obtain a small piece of tissue with subepidermal layers. Best results are obtained from placental villi, which remain viable much longer than fetal tissue. This is especially true in stillborn cases in which both cord blood and tissue samples are often not viable. If specimen is a product of conception, submit biopsies in a sterile tube with sterile Ringer's lactate, Hanks' balanced salt solution, or LabCorp transport medium.