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Disease Detection & Prevention

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Genetic Testing

With advances in modern medicine, genetic testing can be used in many applications for early disease detection, risk assessment and prevention. Providing in-depth information on genes and chromosomes, results from genetic testing allow the opportunity to discover a pre-disposition to disease, to pre-empt potential future problems and to combat early onset of symptoms. The types of genetic testing currently available from Enliven’s medical associates include:

Diagnostic Testing

Genetic testing is often used to confirm a given diagnosis, when a particular condition is suspected based on physical signs and symptoms. Diagnostic testing either identifies or rules out a specific genetic or chromosomal condition, and the results can help influence choices on healthcare and managing the disorder. While not available for all genes or all genetic conditions, this test can be performed before birth or at any time in life.

Carrier Testing

Carrier testing is able to determine if an individual is a ‘carrier’ of specific diseases. This type of genetic testing is offered to those who have a family history of a genetic disorder and to people in certain ethnic groups with increased risk of specific genetic conditions. Most often provided to couples looking to have children, the carrier test identifies gene mutation that, when present in both parties, increases the incidence of a genetic disorder. In short, the couple’s risk of having a child with a genetic condition is assessed.

Preimplantation Testing

To detect genetic changes in embryos, created using assisted reproductive techniques, such as invitro fertilization, preimplantation testing is also known as preimplantation genetic diagnosis (PGD). A specialized technique, this type of testing may reduce the risk of having a child with a particular genetic or chromosomal disorder. A small number of cells are taken from the embryos, prior to implantation, in assisted reproduction, and tested for certain genetic changes. Only embryos without these changes are implanted in the uterus, to initiate pregnancy.

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Prenatal Testing

Performed during pregnancy, prenatal testing is used to detect changes in the genes or chromosomes of a fetus before birth. This type of testing is recommended, if there is an increased risk of the baby having a genetic or chromosomal disorder. In some cases, prenatal testing can provide a degree of assurance to couples, or assist in pregnancy decision-making. However, not all possible inherited disorders and birth defects can be identified at this time.

Newborn Screening

Implemented immediately subsequent to birth, newborn screening (also known as neonatal screening) is used to identify a multitude of genetic disorders, which can then be treated head on. Particularly in the United States, millions of infants are tested each year, for such problems as phenylketonuria, which, when left untreated, is responsible for intellectual disability. Screening can also uncover hemoglobin disorders and congenital hypothyroidism, a disorder of the endocrine system, meaning an underactive thyroid gland, which causes a range of health issues.

Predictive & Presymptomatic Testing

Predictive and presymptomatic testing help to detect gene mutations associated with disorders appearing at any time in life (after birth). The test results can assess the risk of developing a specific disorder and help in decision-making, regarding medical care. These tests can be useful for people without manifestations of a genetic disorder, which already afflicts a member of their family. Predictive testing can identify mutations that increase a person’s risk of developing genetic based disorders, such as certain cancers. Presymptomatic testing can determine whether a genetic disorder will develop, before signs or symptoms appear. One such disease is hereditary hemochromatosis, which alters ability to regulate iron absorption; correctly diagnosed, it is easily treated, but undiagnosed it may lead to significant organ damage.

Forensic Testing

Unlike the aforementioned genetic tests, forensic testing is not used to detect gene mutations associated with disease. This type of testing utilizes DNA sequences for the purpose of legally identifying an individual. Forensic testing can identify victims of crime or catastrophe, and implicate or exonerate a crime suspect, as well as establish biological relationships between people, such as paternity.

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