Cardiology

Arrhythmias
Details
Paragrafi Modificati

Arrhythmias extended analysis [75 genes]. Code R-101

Ventricular arrhythmias [50 genes]. Code R-101S201

Atrial fibrillation [43 genes]. Code R-101S200

Brugada syndrome [40 genes]. Code R-101S204

Long QT syndrome [21 genes]. Code R-101S203

Catecholaminergic polymorphic ventricular tachycardia [12 genes]. Code R-101S205

Short QT syndrome [8 genes]. Code R-101S202

Cardiomyopathies
Details
Paragrafi Modificati Paragrafi Modificati

Cardiomyopathy extended analysis [117 genes]. Code R-102

Non-syndromic dilated cardiomyopathy [58 genes]. Code R-102S207

Non-syndromic hypertrophic cardiomyopathy [34 genes]. Code R-102S208

Syndromic hypertrophic cardiomyopathy [23 genes]. Code R-102S308

Syndromic dilated cardiomyopathy [20 genes]. Code R-102S307

Arrhythmogenic cardiomyopathy [19 genes]. Code R-102S209

Non-compaction of the left ventricle [37 genes]. Code R-102S206

Restrictive cardiomyopathy [16 genes]. Code R-102S210

Congenital heart defects, heart disease
Details
Paragrafi Modificati Paragrafi Modificati

Heart disease extended analysis [211 genes]. Code R-106

Syndromic heart disease [104 genes]. Code R-106S310

Non-syndromic heart disease [56 genes]. Code R-106S309

Collagenopathies
Details
Paragrafi Modificati

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

Ehlers Danlos syndrome [57 genes]. Code R-107S211

Collagenopathies with vascular involvement [35 genes]. Code R-107S215

Marfan syndrome [21 genes]. Code R-107S212

Familial amyloidosis (TTR)
Details
Fabry disease (GLA)
Details
Rasopathies and Noonan Syndrome
Details
Elastic pseudoexantoma
Details
Heterotaxy
Details
Aortopathies
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
GAA SALSA MLPA Probemix P453 GAA
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.