Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.

Hemmo A F YskaKim ElsinkTaco W KuijpersGeert W J FrederixMariëlle E van GijnJoris M van Montfrans

Published in: Journal of clinical immunology (2019)

NGS has the ability to contribute significantly to the identification of molecular mechanisms in PID patients. The diagnostic yield highly depends on population and on the technical circumstances under which NGS is employed. Further research is needed to determine the exact diagnostic yield and clinical implications of NGS in patients with PID.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
copy number
patient reported outcomes
density functional theory
gene expression
circulating tumor cells