Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies.

Gregory W RoloffLucy A GodleyMichael W Drazer

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

A high degree of diagnostic heterogeneity exists among commercially available HHM diagnostic assays. Many of these assays are incapable of detecting the full spectrum of HHM-associated variants, leaving patients vulnerable to the consequences of underdiagnosis, missed opportunities for screening, and the potential for donor-derived malignancies.

Keyphrases

end stage renal disease
single cell
high throughput
copy number
ejection fraction
newly diagnosed
chronic kidney disease
oxidative stress