Nephropathies

• Genetic glomerular diseases [138 genes]
• Nephrotic syndrome [86 genes]
• Genetic glomerulonephritis [44 genes]
• Focal segmental glomerulosclerosis (FSGE) [29 genes]
• Atypical hemolytic-uremic syndrome (aHUS) [17 genes]
• Alport syndrome [6 genes]
• Fabry disease [1 gene]

• Polymalformative syndromes associated with kidney involvement [265 genes]
• CAKUT syndrome [63 genes]
• Renal tubular dysgenesis (RTD) [4 genes]
• Neural tube defects) [24 genes]

• Tubulointerstitial and metabolic kidney diseases [283 genes]
• Renal tubular acidosis (RTA) [29 genes]
• Metabolic alkalosis [25 genes]
• Bartter syndrome [11 genes]
• Gitelman syndrome [1 gene]
• Liddle syndrome (pseudoaldosteronism) [7 genes]
• Genetic nephrolithiasis [50 genes]
• Primary hyperoxaluria [3 genes]
• Cystinuria [2 genes]
• Primary xanthinuria [2 genes]
• Hypomagnesemia [14 genes]
• Hypophosphatemic rickets [12 genes]
• Nephrogenic diabetes insipidus [3 genes]
• Renal cystic diseases [158 genes]
• Polycystic kidney disease [18 genes]
• AD polycystic kidney disease (PKD1, PKD2, GANAB) [3 genes]*
• AD polycystic kidney disease (ADPKD) [13 genes]**
• Autosomal recessive polycystic kidney disease (ARPKD) [5 genes]**
• Nephronophthisis [36 genes]
• Joubert syndrome [34 genes]
• Meckel-Gruber syndrome [20 genes]
• Senior-Løken syndrome [14 genes]
• Bardet–Biedl syndrome [24 genes]
• AD tubulointerstitial nephropathy [5 genes]

*Includes a specific analysis of exons 1-33 of PKD1.
**Not includes a specific analysis of exons 1-33 of PKD1.

• Nephropathies Global Panel [529 genes]

TAT (turnaround time): 2 weeks

Sanger sequencing studies on carriers of variants that have been previously described in the family.

TAT (turnaround time): 35 days

Individual gene sequencing and interpretation service. Depending on its size and on the regions of interest, we can offer an approach based on Sanger sequencing or on NGS (enrichment using amplicons or hybridization probes). The NGS-based approach allows detecting copy number variations (CNVs).

TAT (turnaround time): 35 days

Semiquantitative technique that is widely applied in molecular genetic laboratories and that allows diagnosing pathologies caused by copy number variations and, in some cases, by alterations in DNA methylation. A wide variety of commercial kits are available to test individual genes, gene panels related to specific pathologies, or large chromosomal regions involved in microdeletion/microduplication syndromes. HIC offers MLPA services based on MRC-Holland kits.