Clinical evaluation of a hemochromatosis next-generation sequencing gene panel.

Matthew B LanktreeBekim SadikovicJohn S WayeAlexander LevstikBruce B LanktreeJovana YudinMark A CrowtherGuillaume ParePaul C Adams

Published in: European journal of haematology (2016)

An iron metabolism gene panel provided a molecular diagnosis in six patients with non-HFE iron overload and is suitable for diagnostic purposes in exceptional cases in specialized clinics. Further research will be required to assess the modifier effect of rare heterozygous mutations in iron metabolism genes.

Keyphrases

clinical evaluation
copy number
genome wide
genome wide identification
iron deficiency
primary care
palliative care
genome wide analysis
dna methylation
early onset
gene expression
transcription factor
single molecule
circulating tumor