SOPHiA Nephropathies Solution

NGS panel enabling the detection of SNVs, InDels and CNVs in 44 genes associated with nephropathies using hybrid capture technology.

More detailed product information

NGS panel enabling the detection of SNVs, InDels and CNVs in 44 genes associated with nephropathies (nephrotic syndromes, polycystic kidney disorders, Bartter syndromes, Alport syndrome, CAKUT and tubulopathies). The panel covers the coding regions of the included genes with an overlap of 5 bp into the intronic regions and also allows reliable differentiation of gene and pseudogene variants in PKD11.

Library preparation is based on hybridization capture technology.
The kit is validated for Illumina NGS sequencers.

The solution also includes the unique SOPHiA DDM platform for secondary and tertiary analysis of the resulting NGS data, which enables:

Dual Variant Pre-classification according to ACMG and the SOPHiA algorithm
Creation of virtual panels
Customizable variant filtering and sorting
Trio Familial Variant Analysis
Direct connection to databases, tools and in silico predictors

List of included genes: AGXT, AQP2, ATP6V0A4, ATP6V1B1, AVPR2, BSND, CASR, CEP290, CLCN5, CLCNKB, COL4A3, COL4A4, COL4A5, CRB2, CTNS, CUBN, CYP24A1, DSTYK, EMP2, EYA1, FN1, FOXC1, GRHPR, HNF1B, KANK2, KCNJ1, LAMB2, NPHS2, NR3C2, OCRL, PAX2, PHEX, PKD1, PKD2, PKHD1, SIX1, SLC12A1, SLC12A3, SLC34A1, SLC4A1, SLC4A4, TTC21B, UMOD, WT1

For more information, please contact us by e-mail: diagnostika@pentagen.cz