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Genetic testing
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A genetic test is a medical test that looks for changes at three levels: in genes, in chromosomes, or in proteins. Its result can confirm or rule out a genetic condition that was already suspected, or help estimate how likely a person is to develop it or pass it on to their children.
Picture DNA as a very long book. Gene tests read it up close: they study the DNA sequence, the order of its letters. Chromosomal tests look at whole chapters and search for large changes, such as an extra copy of a chromosome. And biochemical tests don't read the book at all: they measure the amount or activity of proteins and enzymes.
It also helps to know what a genetic test can't tell you. The information it provides can be limited: it can't say whether symptoms will appear, how severe the disease will be, or whether it will get worse over time. And sometimes the result is inconclusive, meaning it doesn't settle the question.
In brief
A genetic test identifies changes in genes, chromosomes, or proteins; it can confirm or rule out a suspected genetic condition or help estimate the chance of developing or passing it on.
Gene tests study DNA sequences; chromosomal tests look for large changes, such as an extra chromosome; biochemical tests measure the amount or activity of proteins or enzymes.
Its information can be limited: it can't tell whether symptoms will appear, how severe the disease will be, or whether it will worsen, and the result may be inconclusive.
Sources (2)
- MedlinePlus, U.S. National Library of MedicineWhat is genetic testing?, MedlinePlus GeneticsPublished
- MedlinePlus, U.S. National Library of MedicineGenetic Testing, MedlinePlusPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated