Genomic diagnosis at the service of the Rare Disease Clinic
in patients with rare diseases (2018-2024)
in association with rare diseases
in association with rare diseases not found in the literature
indexed in the Italian population
OUR ANALYSES
NGS analysis
Hereditary diseases with low, medium and high genetic heterogeneity: whole-exome NGS sequencing and interpretation with proprietary multigene panels.
Hereditary diseases with very high genetic heterogeneity: NGS analysis conducted in TRIO (exome sequencing and interpretation with proprietary multigene panels).
OUR PANELS IN BRIEF:
- Over 200 panels covering 13 medical areas
- Proprietary panels guided by the clinical phenotype
- Over 3000 clinically relevant genes
- Sequencing with 100x average depth and 99% average coverage
- SNVs and CNVs research
Single gene variant search
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.
Family segregation search for known variants
R&I Genetics offers the service of searching for known family variants. The analysis is performed by means of 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).
CGH Array
CGH ARRAY 400k
Array Agilent GenetiSure Postnatal Research CGH+SNP Microarray, 2x400K, average resolution 9.5 Kb, exon coverage ISCA genes: 89% ≧ 3 probes per exon; analysis using Agilent CytoGenomics 5.0.2.5 software.
CGH ARRAY 180k
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.
MLPA
Multiplex Ligation-dependent Probe Amplification (MLPA) is a molecular technique used to detect changes in the copy number of exons or portions of specific genes. Access to the analysis requires the indication of the gene for which the test is to be conducted.
TP-PCR
TP-PCR is a method for identifying the presence of mutations from repeat zone expansion, usually triplets and hexanucleotides. R&I Genetics has methodologies for the analysis of X-Fragile (FMR1), Huntington's disease (HTT), myotonic dystrophy type 1 (DMPK), frontotemporal dementia and ALS (C9orf72).
Why choose R&I Genetics
Our analyses
R&I Genetics is a laboratory accredited with the National Health System specialising in the diagnosis of hereditary diseases, both rare and common.
We offer a full range of genetic analyses, ranging from single gene analysis to gene panels and exome and genome sequencing...Read more
Technology
R&I Genetics uses Next Generation Sequencing (NGS) as well as CGH analysis, Sanger sequencing, MLPA analysis, to analyse patients' DNA. The identification of disease-causing variants can lead to a diagnosis, determine the prognosis and help select the most appropriate treatments as well as define the risk of familial recurrence... Read more
Innovative solutions
R&I Genetics offers a complete service of NGS (Next Generation Sequencing), CGH, MLPA, TP-PCR, QF-PCR and Sanger genetic testing performed entirely in its own laboratories, capable of meeting all clinical needs in the field of genetics.
R&I Genetics has been operating in Italy for over 20 years and has developed a unique know-how in the diagnosis of rare diseases ...Read more