Glossary:
DNA = The abbreviation for deoxyribonucleic acid, the carrier of genetic information in cells.
Exome = The totality of all exons of an organism.
Exome analysis = The analysis of exome sections to identify genetic variants.
Exon = The sections in a gene that are transferred to the messenger RNA. These are the sections of a gene that are important for its function.
Gene = A section of DNA that contains the genetic information for a particular trait or characteristic of a living organism.
Genetic findings = The written results of a genetic test that indicate genetic variants or abnormalities.
Genetic code = The sequence of bases in DNA that defines genetic information.
Genome = The entire DNA sequence or totality of all genes of an organism.
Genome analysis = The examination of the entire genome for genetic changes. Means the same as genome sequencing.
Intron = Sections in a gene that are cut out to form a messenger RNA (mRNA). Introns are therefore the opposite of exons.
Unclear variant = A genetic alteration whose clinical significance is not clear.
Pathogenic variant = A genetic change that is associated with the development of a disease.
Additional finding = Additional (incidental) information or findings identified during a genetic test.