Gastroenterology
Cholestasis
Cholestasis extended analysis [37 genes]. Code R-145
Familial intrahepatic cholestasis [9 genes]. Code R-145S233
Defects in bile acid synthesis [7 genes]. Code R-145S231
Defects in bile acid conjugation and transport [4 genes]. Code R-145S232
Alagille syndrome / paucity of bile ducts [2 genes]. Code R-145S230
Ciliopathies
Ciliopoathies extended analysis [146 genes]. Code R-188
Meckel syndrome [15 genes]. Code R-188S276
Haemochromatosis
Hepatic fibrosis
Hypertransaminasemia
Early onset intestinal inflammation (VEO-IBD)
Pancreatitis
Congenital diarrhoea
Cholelithiasis
Hyperbilirubinemia
Acute childhood liver failure
Coach Syndrome
Polycystic liver
Glycogenosis
Hepatorenal cystic disorders
Related Analyses
Array CGH 400 K
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
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
CDKN2A SALSA MLPA Probemix P419-B1 CDKN2A/2B-CDK4
GAA SALSA MLPA Probemix P453 GAA
GAA SALSA MLPA Probemix P453 GAA
Family Segregation Analysis, Research Variant Note
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
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.