Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.

Rafael A Del OrbeB ArrizabalagaA B De la HozÁ García-OradM I TejadaJ C Garcia-RuizT FidalgoC BentoL MancoM L Ribeiro

Published in: International journal of laboratory hematology (2016)

Ion PGM sequencing with our custom panel is a highly efficient way to detect mutations causing haemolytic anaemia, including new variations. It is a high-throughput detection method that is ready for application in clinical laboratories.

Keyphrases

highly efficient
high throughput
loop mediated isothermal amplification
single cell
real time pcr
label free
iron deficiency
dna methylation
quantum dots
circulating tumor