[DOWNLOAD] "Utilization and Diagnostic Yield of Neurogenetic Testing at a Tertiary Care Facility (Molecular Diagnostics and Genetics)" by Clinical Chemistry # Book PDF Kindle ePub Free
eBook details
- Title: Utilization and Diagnostic Yield of Neurogenetic Testing at a Tertiary Care Facility (Molecular Diagnostics and Genetics)
- Author : Clinical Chemistry
- Release Date : January 01, 2007
- Genre: Chemistry,Books,Science & Nature,
- Pages : * pages
- Size : 206 KB
Description
As new genetic tests become available, institutions face increasing charges related to their use. Some forms of genetic testing, such as testing for familial cancer syndromes, have been well examined by medical societies (1), insurance companies (2), and others (3, 4). In contrast, there has been little examination of the clinical use of neurogenetic tests, although this testing is rapidly expanding as new disease-causing mutations are identified and new clinical laboratory tests are made available. Neurogenetic disorders are individually rare, with a typical prevalence of 1/10 000. Genetic testing methods are complex and are often subject to intellectual property restrictions. Often there is only 1 CLIA-certified laboratory (or at most a few) offering an individual genetic test, and charges range from several hundred to several thousand dollars per test. In addition, these disorders are complicated and may require evaluation of multiple genetic loci to confirm or exclude a diagnosis. To address this issue, some laboratories offer neurogenetic tests in panels; however, the use of panels may lead to less efficient testing strategies and increased testing charges. In this context, medical centers are seeking ways to encourage clinically efficient and cost-effective test utilization, but limited data are available to guide clinical decision-making. We analyzed the use of neurogenic testing, including the diagnostic yield and cost per positive result, at a university-based tertiary care center.
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