Nephrology

 

Proteinuria
Details
Paragrafi Modificati

Proteinuria extended analysis [160 genes]. Code R-157

Corticoresistant nephrotic syndrome [59 genes]. Code R-157S234

Alport syndrome [3 genes]. Code R-157S213

Tubulopathies
Details
Paragrafi Modificati

Tubulopathies extended analysis [88 genes]. Code R-158

Generalised and proximal renal tubular acidosis [9 genes]. Code R-158S246

Hypophosphatemic rickets [8 genes]. Code R-158S240

Gordon syndrome, familial hypertension with hyperkalemia [8 genes]. Code R-158S237

Bartter syndrome [7 genes]. Code R-158S235

Hypomagnesemia [7 genes] Code R-158S239

Primary hyperoxaluria [3 genes]. Code R-158S244

Renal glycosuria [3 genes]. Code R-158S241

Nephrolithiasis [3 genes]. Code R-158S242

Gitelman syndrome [2 genes]. Code R-158S238

Cystinuria [2 genes] Code R-158S243

Dent syndrome [2 genes] Code R-158S236

Ciliopathies
Details
Paragrafi Modificati

Ciliopathies extended analysis [146 genes]. Code R-188

Nephronophthisis [19 genes]. Code R-188S304

Collagenopathies
Details
Paragrafi Modificati

Collagenopathies extended analysis [109 genes]. Code R-107

Alport syndrome [3 genes]. Code R-157S213

Hyperuricaemia
Details
Nephrocalcinosis and nephrolithiasis
Details
Haemolytic uremic syndrome
Details
CAKUT
Details
Tube-interstitial diseases
Details
Dominant polycystic kidney
Details
Polycystic kidney dominant (PKD1 and PKD2)
Details
Hepatorenal cystic disorders
Details
Pseudoipoaldosteronism
Details

Related Analyses

Array CGH 400 K
Details
Array Agilent GenetiSure Postnatal Research CGH+SNP Microarray, 2x400K, average resolution 9.5 Kb, exon coverage ISCA genes: 89% ≧ 3 probes per exon; analysis performed using Agilent CytoGenomics 5.0.2.5 software Limitations: The test is not able to highlight balanced structural rearrangements and/or underrepresented mosaicisms
Array CGH 180 K
Details
Agilent GenetiSure Cyto 4x180K CGH array, average resolution 16.5 Kb (from 3.5kb in RefSeq genes to 19.8kb in the backbone), analysis performed using Agilent CytoGenomics 5.0.2.5 software Limitations: The test is not able to highlight balanced structural rearrangements and/or underrepresented mosaicisms
MLPA
Details
MLPA NF1 gene (SALSA® MLPA® probemixes P081 NF1 mix 1 and P082 NF1 mix 2 )
MLPA gene NF2 (SALSA® MLPA® Probemix P044)
Family Segregation Analysis, Research Variant Note
Details
R&I Genetics offers the service of searching for known family variants. The analysis is carried out by Sanger resequencing, and for access it is necessary to indicate the nucleotide substitution and the corresponding transcript code (e.g. search for variant c.91C>T in the CFTR gene NM_000492)
Variant Search in Specific Genes
Details
R&I Genetics offers the service of targeted analysis of one or more specifically requested genes. These must be indicated in the analysis request form in the dedicated section. The analysis will be performed by means of NGS or Sanger sequencing.