A rapid micromethod for prenatal diagnosis of Lesch Nyhan syndrome*

Abstract

A method is described which enables prenatal diagnosis of Lesch Nyhan Syndrome (HGPRT deficiency) to be made within 7-10 days. The procedure is based on the direct cultivation of amniotic cells in microtest II plates; the HGPRT reaction is performed in individual wells containing between 500 to 10,000 cells, and is followed by separation of the radioactive reaction products by means of microchromatography on 3 cm x 5 cm PEI plates. This method permits determination of the actual HGPRT enzyme activity of the cell lines.