Utility of Genomic Testing after Renal Biopsy.

ABSTRACT:

Background

Renal biopsy is the mainstay of renal pathological diagnosis. Despite sophisticated diagnostic techniques, it is not always possible to make a precise pathological diagnosis. Our aim was to identify a genetic cause of disease in patients who had undergone renal biopsy and determine if genetic testing altered diagnosis or treatment.

Methods

Patients with suspected familial kidney disease underwent a variety of next-generation sequencing (NGS) strategies. The subset of these patients who had also undergone native kidney biopsy was identified. Histological specimens were reviewed by a consultant pathologist, and genetic and pathological diagnoses were compared.

Results

Seventy-five patients in 47 families underwent genetic sequencing and renal biopsy. Patients

SUBMITTER: Murray SL 

PROVIDER: S-EPMC6957728 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature