The Nephropathy Solution (NES) of Sophia Genetics covers the coding regions (± 5 bp of the intron regions) of 44 most clinically relevant genes related to a broad range of nephropathies such as nephrotic syndromes, polycystic kidney diseases, Bartter syndromes, Alport syndrome, CAKUT or tubulopathies.
It also allows the detection of SNV and Indels, and guarantees a high percentage of readings in the target and uniformity of coverage, even in regions rich in GC.
The kit uses NGS capture technology and is intended for use on Illumina platforms. The results are interpreted in the SOPHiA DDM platform, designed for the analysis and protection of NGS clinical data in routine diagnosis.
SOPHiA DDM analyzes complex NGS genomic data through the detection, annotation and pre-classification of genomic variants to help clinicians better diagnose their patients.
In addition to the Nephropathy Solution, we have other more specific panels for clinical diagnosis in areas such as metabolism, oncology, cardiology…
