Glossary

A chromosome aberration refers to a change in the DNA of an organism. This can be a deletion, insertion, duplication or inversion.

An abnormal number of chromosomes

Study undertaken to assess the association between DNA variants and disease.

This details the many QC stages undertaken on each sample at each stage of the experimental process.

Provides a comprehensive list of the technical specifications associated with the CNV application.

This is described as gains and losses of pieces of chromosomal DNA sequence.

De novo CNVs can be caused by genomic rearrangements such as deletions, duplications, inversions, and translocations. A de novo CNV is a CNV that has not been inherited.

A genetic aberration in which part of a chromosome or DNA sequence is absent

Refers to a duplication of a region of DNA.. In some cases a whole chromosome may be duplicated.

The fertilisation of a gamete with two copies of a chromosome by a gamete with no copies of the same chromosome

The development of the male and female germ cells

A genetic variant refers to a change in part of our genomic DNA. Genetic variants have been associated with susceptibility to certain diseases e.g. increased risk of stroke, diabetes etc.

When a child receives two different copies of a chromosome from one parent

Variations within normal chromosomes, especially in the (peri)centromeric regions

A state-of-the-art automated oligonucleotide microarray service, giving rapid turnaround time and rigorous quality control, with a sample throughput to suit your project - from 1 to 1000s of samples per week.