Carnitine Palmitoyltransferase I Deficiency - A Bibliography by Philip M. Parker

By Philip M. Parker

In March 2001, the nationwide Institutes of overall healthiness issued the subsequent caution: "The variety of websites providing health-related assets grows on a daily basis. Many websites offer important info, whereas others could have details that's unreliable or misleading." moreover, a result of quick bring up in Internet-based details, many hours should be wasted looking out, settling on, and printing. due to the fact simply the smallest fraction of knowledge facing Carnitine palmitoyltransferase I deficiency is listed in se's, akin to www.google.com or others, a non-systematic method of web examine will be not just time eating, but in addition incomplete. This booklet was once created for doctors, scholars, and participants of most people who are looking to behavior clinical examine utilizing the main complex instruments to be had and spending the smallest amount of time doing so.

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Extra resources for Carnitine Palmitoyltransferase I Deficiency - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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Mutations that occur only in an egg or sperm cell, or those that occur just after fertilization, are called new (de novo) mutations. De novo mutations may explain genetic disorders in which an affected child has a mutation in every cell, but has no family history of the disorder. Acquired (or somatic) mutations occur in the DNA of individual cells at some time during a person’s life. These changes can be caused by environmental factors such as ultraviolet radiation from the sun, or can occur if a mistake is made as DNA copies itself during cell division.

It is important to remember that the risk per year or per decade is much lower than the lifetime risk. In addition, other factors may increase or decrease a person’s risk as compared with the average. Approximately 1 percent of people in the United States develop disorder D during their lifetimes. The lifetime risk of developing disorder D is 1 in 100. Naming Genetic Conditions Genetic conditions are not named in one standard way (unlike genes, which are given an official name and symbol by a formal committee).

The test typically involves collecting a DNA sample at home, often by swabbing the inside of the cheek, and mailing the sample back to the laboratory. In some cases, the person must visit a health clinic to have blood drawn. Consumers are notified of their results by mail or over the telephone, or the results are posted online. In some cases, a genetic counselor or other healthcare provider is available to explain the results and answer questions. The price for this type of at-home genetic testing ranges from several hundred dollars to more than a thousand dollars.

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