Topics Discussed: genetic analysis; genetic screening; genetics and dysmorphology; neurologic disease.
Sections: Routine Chromosome Study, Fluorescence In-Situ Hybridization (FISH), Array-Based Comparative Genomic Hybridization, Mutation Testing/Sequence Analysis, Unstable Repeat Expansions, DNA Methylation Studies, Uniparental Disomy Studies, Disorders of Mitochondrial Function, Biochemical Testing, Inheritance Patterns and Neurogenetic Testing, Online Resources, References.
Excerpt:"Many of the neurological disorders discussed in this book have a genetic etiology that can be diagnosed and/or confirmed by chromosomal or molecular testing. Due to advances in genetic technology, the range of testing options has increased dramatically in the last few years. Deciding which test to perform and how to interpret the results can be daunting. Accordingly, in this chapter we review the different types of clinically available genetic tests. These can be employed for general screening or for confirmation of a clinically diagnosed condition. The general portfolio of such testing is illustrated in Table 21-1, and this chapter will review these types of tests...."
The content above is only an
excerpt. For full access, log into an existing user account below, purchase an annual subscription, or
purchase a short-term subscription to the complete website.
offers pediatrics students,
educators, and practioners access to leading McGraw-Hill texts, interactive imaging
content, exclusive multimedia, and flexible curricular tools.
Timed access to all of AccessPediatrics
24 hours for $29.95
48 hours for $49.95