Publications by authors named "Elena Fedorovna Kovzel"
Clin Chim Acta
September 2024
Article Synopsis
- DiGeorge syndrome (DGS) is a genetic disorder caused by microdeletions in the 22q11.2 region, leading to a range of developmental abnormalities, with a prevalence of about 1 in 4000 births.
- A new multiplex droplet digital PCR (ddPCR) assay was developed to accurately detect and map these microdeletions by amplifying specific targets and including an internal control.
- The assay proved effective in clinical samples, identifying microdeletions and correlating changes in immune cell counts, indicating its potential for reliable DGS diagnosis using blood samples.
