Haematology/Immunology

 

Haemolytic anaemia
Details
Paragrafi Modificati

Haemolytic anaemia extended analysis [67 genes]. Code R-118

Spherocytosis, Ellipsocytosis and Stomatocytosis Defects in the membrane and cytoskeleton of red blood cells [23 genes]. Code R-118S216

Red blood cell enzyme defects and related metabolic disorders [21 genes]. Code R-118S217

Alpha Thalassaemia (HBA1 and HBA2) [2 genes]. Code R-118S218

Beta Thalassaemia (HBB) [1 gene]. Code R-118S219

Coagulation and platelet disorders
Details
Paragrafi Modificati

Coagulation and platelet disorders extended analysis [98 genes]. Code R-119

Thrombocytopenia [31 Jan1]. Code R-119S222

Coagulation factor disorders [24 genes]. Code R-119S220

Defects in platelet function [21 genes]. Code R-119S221

Immunodeficiency and autoinflammation
Details
Paragrafi Modificati

Immunodeficiency and autoinflammation extended analysis [331 genes]. Code R-120

Self-inflammation [70 genes] Code R-120S223

Vexas syndrome (UBA1)
Details
Hemorrhagic telangiectasia
Details
Diamond-Blackfan Anaemia
Details
Erythrocytosis and polyglobulia
Details
Incontinentia pigmenti
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
CFH SALSA MLPA Probemix P236 CFH Region
CFH1 SALSA MLPA Probemix P236 CFH Region
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.