Clinical genotyping the need for interrogation of single nucleotide polymorphisms and mutations in the clinical laboratory

Abstract:  Clinical genotyping: the need for interrogation of single nucleotide polymorphisms and mutations in the clinical laboratory. Tsongal is GJ, Coleman WB. Department of Pathology, Dartmouth Medical School and Dartmouth Hitchcock Medical Center Lebanon, NH 03756, USA. Gregory.J.Tsongalis@ Hitchcock.org BACKG ROUND: Detection of single nucleotide polymorphisms (SNPs) and gene mutations is becoming more routine to the clinical laboratory. METHODS: Completion of the Human Genome Project has led to new scientific knowledge of human disease processes that has revealed the most fundamental of abnormalities in nucleic acids while at the same time bringing some of the most sophisticated diagnostic tools to the clinical laboratory. In addition, public awareness (both lay persons and healthcare providers) and sensitivity to human genetics has increased tremendously. Together, this rapidly evolving science and increased public education has led to an increasing demand for genotypic testing. CONCLUSIONS: There are several clinical applications of human genotyping that are available using these newer technologies. PMID: 16102741 [PubMed - indexed for MEDLINE]