Dr. Tuchmans laboratory offers DNA testing for OTC deficiency, and a series of other metabolic disorders. Tuchman and Hoffman offer a series of biochemical diagnostics as a clinical service. Dr. Tuchman does a series of amino acid and mass spec analyses on metabolic disorders, while Dr. Hoffman tests muscle biopsies for a series of protein defects. At this time, head growth slows considerably.
Patients then lose cognitive abilities, with characteristic hand movements and other features.
The Hoffman and Naidu laboratories localized the gene to the Xq28 region of the X chromosome in 1998. The disease gene was subsequently identified as the methylated DNA binding protein, MeCP2, by the Zoghbi laboratory in 1999. Currently, samples are accepted through our clinical diagnostic service. Rett syndrome research in Dr. Hoffman s laboratory is continuing and the research studies are branching out into new and exciting directions. At this time, however, we will no longer be accepting samples from girls with Rett syndrome for MeCP2 mutation analysis on a research basis.