Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver-Russell Syndrome.

Soo Yeon Kim Chang Ho Shin Young Ah Lee Choong-Ho Shin Sei Won Yang Tae-Joon Cho Jung Min Ko

Published in: Annals of laboratory medicine (2021)

NH-CSS is a powerful tool for SRS screening. However, in practice, genetic analysis should be considered even in patients with a low NH-CSS score. BP analysis detected additional methylation defects that were missed by MS-MLPA and might be considered as a first-line diagnostic tool for SRS.

Keyphrases

dna methylation
primary care
gene expression
mass spectrometry
room temperature
ms ms
quality improvement