Definition

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

Three main categories:

TypeWhat it examinesWhat it detectsAdaGen/Genetiks equivalent
Gene testsDNA sequenceChanges (mutations) ranging from a single nucleotide to the whole genomeSequence analysis, WES, WGS, disease panels
Chromosome testsWhole chromosomes or long stretches of DNALarge genetic changes, e.g. an extra copy of a chromosomeKaryotype, FISH, microarray
Biochemical testsThe amount or activity level of proteins or enzymesDNA changes indirectly, through enzyme/protein abnormalitiesEnzyme level measurements

Risks and Limitations

Genetic testing has limitations and risks; the decision whether or not to be tested is personal and complex. For this reason, consulting a genetics specialist or genetic counselor is recommended.

Related Tests

Karyotype (Chromosome Analysis)

Examines the number, size and shape of the chromosomes in a cell sample. It shows whether a person has the 46 chromosomes (23 pairs) that are typically expected and whether any

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WES (Whole Exome Sequencing)

The exome is the protein-coding part of the genome; it covers roughly 1-2% of the whole genome, yet the great majority of known disease-causing variants are located here. WES

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FISH (Fluorescence In Situ Hybridization)

A laboratory technique used to detect and show the location of a specific DNA sequence on a chromosome. The person's set of chromosomes is fixed onto a slide; a small piece of DNA

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Genetic Counseling

A service that provides information to people who have, or are at risk of carrying, an inherited condition, and to their relatives, about the course of the disease, treatment

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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