Download Carnitine-Acylcarnitine Translocase Deficiency - A by Philip M. Parker PDF

By Philip M. Parker

In March 2001, the nationwide Institutes of well-being issued the subsequent caution: "The variety of websites supplying health-related assets grows each day. Many websites supply invaluable info, whereas others can have details that's unreliable or misleading." additionally, due to the speedy raise in Internet-based info, many hours might be wasted looking out, picking out, and printing. considering the fact that purely the smallest fraction of data facing Carnitine-acylcarnitine translocase deficiency is listed in se's, comparable to or others, a non-systematic method of net examine could be not just time eating, but in addition incomplete. This booklet used to be created for doctors, scholars, and contributors of most people who are looking to behavior clinical examine utilizing the main complicated instruments on hand and spending the smallest amount of time doing so.

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If the test result is positive, additional testing is needed to determine whether the baby has a genetic disorder. Before a person has a genetic test, it is important that he or she understands the testing procedure, the benefits and limitations of the test, and the possible consequences of the test results. The process of educating a person about the test and obtaining permission is called informed consent. What Is Direct-to-Consumer Genetic Testing? Traditionally, genetic tests have been available only through healthcare providers such as physicians, nurse practitioners, and genetic counselors.

It is important to keep this information up-to-date and to share it with a healthcare professional regularly. What Are the Different Ways in which a Genetic Condition Can Be Inherited? Some genetic conditions are caused by mutations in a single gene. These conditions are usually inherited in one of several straightforward patterns, depending on the gene involved: Inheritance Pattern Autosomal dominant Description One mutated copy of the gene in each cell is sufficient for a person to be affected by an autosomal dominant disorder.

A child with a known inherited disorder, a birth defect, mental retardation, or developmental delay. • A woman who is pregnant or plans to become pregnant at or after age 35. ) • Abnormal test results that suggest a genetic or chromosomal condition. • An increased risk of developing or passing on a particular genetic disorder on the basis of a person’s ethnic background. • People related by blood (for example, cousins) who plan to have children together. ) A genetic consultation is also an important part of the decision-making process for genetic testing.

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