Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.

ABSTRACT: Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder, which causes loss of renal proximal tubular function and progressive loss of glomerular function, finally leading to end stage renal failure at school age. In the course of the disease most patients will need kidney transplantation if treatment has not been started before clinical manifestation. With an effective treatment available, a newborn screening assay is highly demanded. Since newborns with cystinosis usually do not show symptoms within the first months of life and no biochemical markers are easily detectable, a DNA-based method seems to be an obvious tool for early diagnosis. Screening was performed using high-throughput nucleic acid extraction followed by 384-well qPCR and melting analysis for the t

SUBMITTER: Fleige T 

PROVIDER: S-EPMC6974606 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature