List of diseases covered by Nephrotic Syndrome NGS panel

Published 15/08/2019

List of diseases covered by
Nephrotic Syndrome NGS panel

Gene Condition
ACTN4 Glomerulosclerosis, focal segmental, 1
ARHGDIA Nephrotic syndrome, type 8
COQ2 Coenzyme Q10 deficiency, primary, 1
COQ8B Nephrotic syndrome, type 9
DGKE Nephrotic syndrome, type 7
EMP2 Nephrotic syndrome, type 10
ITGA3 Interstitial lung disease, nephrotic syndrome,
and epidermolysis bullosa, congenital
LAMB2 Nephrotic syndrome, type 5,
with or without ocular abnormalities; Pierson syndrome
NPHS1 Nephrotic syndrome, type 1
NPHS2 Nephrotic syndrome, type 2
PLCE1 Nephrotic syndrome, type 3
PTPRO Nephrotic syndrome, type 6
SMARCAL1 Schimke immunoosseous dysplasia
WDR73 Galloway-Mowat syndrome 1
WT1 Wilms tumor, type 1; Denys-Drash syndrome;
Frasier syndrome; Meacham syndrome;
Nephrotic syndrome, type 4

Nephrotic Syndrome NGS panel

Published 15/08/2019

Nephrotic Syndrome NGS panel

Genes
(full coding
region):		 ACTN4, ARHGDIA, COQ2, COQ8B, DGKE, EMP2, ITGA3, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, SMARCAL1, WDR73, WT1

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form