兒童遺傳科及內分泌科

In the past decade, we have devoted ourselves to using molecular biology technology to analyze various hereditary endocrine and metabolic diseases in Taiwanese people. More than dozens of new mutation sites have been identified, providing complete local mutation data for genetic and metabolic disorders in Taiwan and giving the best complementary evidence for clinical diagnosis. Our research is clinically oriented, analyzing the virulence genes of these diseases and creating specific detection methods. Our biochemical genetics laboratory, by introducing tandem mass spectrometers, first promoted newborn screening and gathered normal data on Taiwanese, and used mass spectrometry to identify a number of inherited metabolic disorders for major domestic medical centers. In terms of cell heredity, we can perform amniotic fluid chromosome analysis, blood chromosome analysis, bone marrow chromosome analysis, villi chromosome analysis, other chromosome analyse (e.g., apoblema and skin biopsies), and fluorescence in situ hybridization. Common chromosomal abnormalities (e.g. Down's syndrome) and rare chromosomal microdeletions (e.g., Prader-Willi syndrome and Williams syndrome) can be accurately diagnosed.