Multiplex droplet digital PCR for 22q11.2 microdeletions screening and DiGeorge syndrome diagnostics.

Igor Petrovich OscorbinMaria Alexandrovna GordukovaNataliia Vladimirovna DavydovaNatalia Valentinovna ZinovievaElena Fedorovna KovzelLucia AndriesDmitry Anatolyevich KudlayMaxim Leonidovich Filipenko

Published in: Clinica chimica acta; international journal of clinical chemistry (2024)

The designed ddPCR assay is suitable for diagnosing DGS using whole blood and blood spots.

Keyphrases

high throughput
real time pcr
single cell
case report