Oncology
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
TSC2 SALSA MLPA Probemix P351-D1 PKD1
CDKN2A SALSA MLPA Probemix P419-B1 CDKN2A/2B-CDK4
CDKN2B SALSA MLPA Probemix P419-B1 CDKN2A/2B-CDK4
CDK4 SALSA MLPA Probemix P419-B1 CDKN2A/2B-CDK4
BRCA1 SALSA MLPA Probemix P002 BRCA1
BRCA2 SALSA MLPA Probemix P090 BRCA2
NF1 SALSA MLPA Probemix P081 NF1 mix 1 and 2
NF2 SALSA MLPA Probemix P044 NF2
CDKN2A SALSA MLPA Probemix P419-B1 CDKN2A/2B-CDK4
CDKN2B SALSA MLPA Probemix P419-B1 CDKN2A/2B-CDK4
CDK4 SALSA MLPA Probemix P419-B1 CDKN2A/2B-CDK4
BRCA1 SALSA MLPA Probemix P002 BRCA1
BRCA2 SALSA MLPA Probemix P090 BRCA2
NF1 SALSA MLPA Probemix P081 NF1 mix 1 and 2
NF2 SALSA MLPA Probemix P044 NF2
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.