New Approaches to Molecular Diagnosis

• Autores: Bruce R. Korf, Heidi L. Rehm
• Localización: JAMA: the journal of the American Medical Association, ISSN 0098-7484, Vol. 309, Nº. 14, 2013, págs. 1511-1521
• Idioma: inglés
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• Resumen

  • Advances in understanding the molecular basis of rare and common disorders, as well as in the technology of DNA analysis, are rapidly changing the landscape of molecular genetic and genomic testing. High-resolution molecular cytogenetic analysis can now detect deletions or duplications of DNA of a few hundred thousand nucleotides, well below the resolution of the light microscope. Diagnostic testing for �single-gene� disorders can be done by targeted analysis for specific mutations, by sequencing a specific gene to scan for mutations, or by analyzing multiple genes in which mutation may lead to a similar phenotype.