Genetic Testing

Genetic Testing

Allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a person's ancestry. Every person carries two copies of every gene, one inherited from their mother, one inherited from their father. The human genome is believed to contain about 25,000 genes. In addition to studying chromosomes to the level of individual genes, genetic testing in a broader sense includes biochemical tests for the presence or absence of key proteins that signal aberrant genes.


Genetic testing usually involves examining a person's DNA - taken from cells in a sample of blood or, occasionally, from other body fluids or tissues - for some anomaly that flags a disease or disorder. The DNA change can be relatively large: a missing or added piece of a chromosome - even an entire chromosome - that is visible under a microscope. Or it can be extremely small, as little as one extra, missing, or altered chemical base.


Genetic testing can provide only limited information about an inherited condition. The test often can't determine if a person will show symptoms of a disorder, how severe the symptoms will be, or whether the disorder will progress over time. Another major limitation is the lack of treatment strategies for many genetic disorders once they are diagnosed.

Why Doctors Recommend Genetic Testing

Genetic testing has developed enough so that doctors can often pinpoint missing or defective genes. The type of genetic test needed to make a specific diagnosis depends on the particular illness that a doctor suspects.


Many different types of body fluids and tissues can be used in genetic testing. For deoxyribonucleic acid (DNA) screening, only a very tiny bit of blood, skin, bone, or other tissue is needed.


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