NephroSure – Detect Rare Nephrology Disorders with Focused Genetic Panels
Genetic testing by efficient sequencing technologies enables precise diagnosis of mutations in nephrogenes.
Focused Test Menu - 8 targeted panels and 1comprehensive nephrology panel which screen for 164 genes.
Updated Gene List - New nephrology panel offered by Eurofins is updated with more genes which are recently updated in OMIM 2019. Growing number of genes related to Inherited Kidney disorders (IKD) is increasing the Phenotype-Genotype complexity.
Better Probe Coverage - We are using the most recommended Agilent probes, which have 80% probe coverage to ensure maximum read depth (100X) during sequencing.
Combo Panels (NGS+MLPA) –
- aHUS/C3 Glomerulopathy
- Autosomal dominant/ Recessive polycystic kidney disorders (PKD). MLPA optional for AR-PKD.
Why Combo panels of (NGS + MLPA)
Large Copy Number Variations (CNVs) such as deletions and duplications are associated with increased risk of Genetic Renal Disorders (GRDs) such as AR-PKD and aHUS. These larger deletion/duplications are undetectable by Next Generation Sequencing (NGS) and Sanger Sequencing. It is recommended to use additional test called MLPA in combination with NGS to reliably detect the large deletions and duplications in 2 nephrogenes.