A glossary of common molecular genetics terminology.


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

Association study

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

CNV quality control (QC) sheet

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

CNV specification sheet

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

Copy number variation

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

De novo CNV's

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.

Gamete complementation

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

Genetic variant

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

High throughput microarray service

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.