StemCell Therapy

Wayne W. Grody, Joshua L. Deignan, in Emery and Rimoin's Principles and Practice of Medical Genetics, 2013

This article is a revision of the previous edition article by Wayne W Grody, volume 1, pp 601626, 2007, Elsevier Ltd.

Molecular genetic testing has a unique range of indications, most of which are quite different from the uses of traditional clinical laboratory testing and even molecular biologic testing in other disease classes (e.g. infectious disease, cancer). The technical approaches as well as the psychosocial and ethical implications of molecular genetic tests may vary substantially depending on the reason for testing (e.g. diagnostic, carrier screening). Just as many of the applications are unique, so too the types of patient samples collected for molecular genetic testing may be different from those obtained for other types of clinical laboratory testing. In addition, the choice of technique will depend on the nature of the disease gene being studied (especially its size and mutational heterogeneity), the purpose of the test, and to some extent the condition of the specimen, and examples of specific conditions are discussed. Finally, high complexity laboratories performing molecular genetic testing need to be aware of the specific regulatory considerations involved.

Originally posted here:
Molecular Genetics - an overview | ScienceDirect Topics

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