Here are Some Categories of Genetic Testing

Here are Some Categories of Genetic Testing

Alex D'Souza, Healthcare Tech Outlook | Thursday, February 18, 2021

Carrier testing is used to classify individuals who possess a copy of a gene mutation that, when found in two copies, causes a genetic disorder.

FREMONT, CA: Genetic testing is a method of medical testing that detects differences in chromosomes, genes, or proteins. A genetic test's findings can confirm or rule out a suspected genetic condition or help decide a person's risk of contracting or passing on a genetic disorder. Over 1,000 genetic tests are currently being used, and more are being produced.

Genetic testing may provide information on the genes and chromosomes of an individual. Some of the categories of testing available include:

Newborn ScreeningTop Genetic Diagnostics Companies

Newborn screening is used only after birth to detect genetic defects that can be treated early in life. Millions of babies are screened every year. Thus, all states are now monitoring babies for phenylketonuria (an inherited disease that induces developmental disability if left untreated) and congenital hypothyroidism (a thyroid gland disorder). Many states are now looking for other genetic disorders.

Diagnostic Evaluations

Diagnostic testing is used to classify or rule out a particular genetic or chromosome disorder. In some instances, genetic testing is used to validate a diagnosis where a specific condition is suspected depending on physical signs and indications. Diagnostic testing can be done before birth or at some point during a person's life but is not required for all genes or genetic disorders. The findings of a diagnostic test can affect a person's decisions about health care and the treatment of the condition.

Carrier Testing

Carrier testing is used to classify individuals who possess a copy of a gene mutation that, when found in two copies, causes a genetic disorder. This testing method is given to people with a family history of genetic disease and individuals with an elevated risk of particular genetic disorders of some ethnic groups. If both parents are screened, the test will provide details on a couple's chance of having a child with a genetic disorder.

Prenatal Testing

Prenatal monitoring is used to identify changes in the prenatal genes or chromosomes before birth. This testing method is provided during breastfeeding if there is an elevated likelihood that the infant may have a genetic or chromosomal disorder. In some situations, prenatal testing can minimize the uncertainty of a couple or help them make decisions about pregnancy. However, it cannot classify all potential genetic diseases and congenital disabilities.

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