Ion Reporter™ Software Aneuploidy Analysis
Copy number variations (CNVs) represent a class of variation in which segments of the genome have been duplicated (gains) or deleted (losses). The genomic copy number imbalances involve large regions, ranging from subchromosomal regions to whole chromosomes. Inherited de novo CNVs (up to ~10 Mb) have been associated with many disease conditions, including cancers and inherited genetic disorders. These events are commonly associated with negative effects on human reproductive viability.
Most normal human somatic cells contain a diploid (2N) set of autosomes (non-sex chromosomes) and a pair of sex chromosomes. Cells that do not contain an exact diploid set are called aneuploid (Figure 1). Common types of aneuploidy that survive to term are monosomy (the loss of one chromosome) of the X chromosome in females—Turner syndrome (45, X)—and some trisomies, three copies of a given chromosome in a diploid cell. Live births are possible with trisomies of chromosomes 13 (Patau syndrome), 18 (Edwards syndrome), and 21 (Down syndrome), as with the presence of extra sex chromosomes, such as in Klinefelter syndrome (47, XXY) and Triplo-X syndrome (47, XXX).
Detect duplications or deletions of entire chromosomes within a day, using Ion Reporter™ Software, at significantly lower cost than karyotyping.
Rapid and simple workflow for aneuploidy detection
- Perform low-pass whole-genome sequencing
- Analyze with aneuploidy workflow
- Visualize aneuploidy using customized IGV Karyotype View
- Create your interpretive report
Low-pass whole-genome aneuploidy workflow features:
- Uses as little as a single cell’s DNA as input, followed by whole-genome amplification that is robust at as low as 0.01x coverage
- Compares samples are to a built-in bioinformatics baseline normal control. Detects gains or losses of whole chromosomes (aneuploidy) and subchromosomal regions (≥10 Mb)
- Delivers DNA ploidy results using low-pass coverage. Achieves 100% sensitivity and 100% specificity relative to microarray-based truth data on same samples
Read the application note
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For Research Use Only. Not for use in diagnostic procedures.