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The sample of choice is blood.
Two purple cap tubes (K2DTA) with 4-5 ml of blood each for the adult or 1-2 ml for the child are sufficient.
Store at +4 degrees until dispatched; DO NOT FREEZE
Ship the sample at room temperature in the appropriate containers within 2-3 days.
The sample must arrive at the laboratory within 4 days
R&I Genetics can send doctors e-mails upon request info@rigenetics.comcomplete blood sampling kits, including shipping envelope.
The kit can be picked up at the address communicated by e-mail to info@rigenetics.com by a courier at R&I Genetics' expense.
The report will be available within 8-12 weeks after receipt of the sample for gene panel and single gene analysis; for exome or trio genome analysis the report will be available within 12-20 weeks.
The original report will be sent by courier to the requesting doctor and will be available and downloadable from the reserved area of our site by the same doctor.
R&I Genetics will keep the requesting physician informed of the analysis process by e-mail.
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 to exome and genome sequencing.
R&I Genetics actively collaborates with leading Italian hospital and university centres, guaranteeing a high level of expertise and support in genetic diagnosis.
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 prognosis and help select the most appropriate treatments as well as define the risk of familial recurrence.
NGS technology enables an in-depth analysis of thousands of clinically relevant genes in a timeframe that facilitates clinical action and the possibility of performing almost all in-depth laboratory diagnostics, making R&I Genetics a benchmark for the diagnosis of rare genetic diseases.
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 with the creation of proprietary genotype-phenotype association databases that increase the diagnostic sensitivity of the tests offered.
R&I Genetics offers a complete service that includes sample analysis and, if necessary, sample collection, interpretation of variants, segregation in family members, preparation of the report with database and literature references, and electronic and paper submission of the report to the requesting physician.
R&I Genetics offers a technical support service to applicant doctors with trained operators.
R&I Genetics uses next-generation sequencing (NGS) to analyse the DNA of patients. Alterations in the DNA sequence (called variants) can be harmful and cause serious medical conditions. Many inherited diseases are caused by DNA variants that originate in germ cells and are subsequently present in all cells of the human body.
The identification of disease-causing variants can lead to a diagnosis, determine a patient's prognosis and help select the most appropriate treatments.
NGS technology enables a comprehensive analysis of thousands of clinically relevant target genes in a timeframe that facilitates clinical intervention. NGS sequencing detects different types of variants, such as nucleotide substitutions (point mutations) or nucleotide addition/removal (insertions and deletions). R&I Genetics has also implemented NGS searches for genetic events called 'copy number variations' (CNVs), i.e. deletions or insertions of nucleotide portions of significant size (often one or more exons) that cannot be detected by traditional methods.
R&I Genetics offers a complete service of complementary genetic testing such as CGH array, MLPA, TP-PCR, QF-PCR and Sanger sequencing, all performed entirely in its own laboratories, capable of meeting all clinical needs in the genetic field.
The data generated by sequencing are processed using a bioinformatics pipeline developed and validated in our laboratories, based on the Broad Institute’s GATK Best Practices and accelerated implementations (Sentieon or DRAGEN). The pipeline includes quality control, sequence alignment and variant identification.
The variants are then filtered according to their allele frequency in the population and annotated using in silico prediction tools and public, commercial and in-house databases of disease-associated variants, including the R&I Genetics’ proprietary database.
The analysis is phenotype-driven: based on the patient’s clinical presentation, the interpretation focuses on all the genes currently associated with the suspected conditions. The associations between genes and diseases are defined by our research and development team, drawing on the scientific literature and a system correlating phenotypes, diseases and molecular mechanisms, and are updated as new evidence becomes available; where possible, the genes are organised into related subgroups.
As the entire exome is sequenced, the analysis can be extended to other genes without the need for a new blood sample or further sequencing: if the phenotype changes or the initial analysis is inconclusive, it is possible to expand the range of genes investigated using the same data, in accordance with arrangements made with the doctor.
In more complex cases, where the clinical presentation does not point to a specific group of conditions or the initial analysis is inconclusive, reverse phenotyping is used: the variants identified in the exome are assessed against the clinical picture, which is reviewed together with the doctor, to verify the correspondence between genotype and phenotype.
Variants are classified according to the ACMG/AMP (2015) criteria and subsequent ClinGen recommendations, based on population databases and gene- or disease-specific databases, R&I Genetics’ proprietary database, the scientific literature and the patient’s clinical presentation
1 Primary outcome
Results relating to the clinical question that prompted the request
• Variants identified
• Technical commentary
• Review of the relevant scientific literature
• Classification of variants in accordance with the ACMG/AMP guidelines (2015) and subsequent ClinGen recommendations
2 Secondary outcome
Variants indicating that the patient is a healthy carrier of recessively inherited disorders
• Information relevant to the patient’s family, useful for genetic counselling and family planning
3 Sequencing quality
To ensure the quality of the analysis
• Test quality indicators: number of genes analysed, average coverage and percentage of regions covered
• A complete list of the genes analysed, with their respective coverage
4 Online delivery
The report is available on the portal for doctors as soon as it is issued, with email notifications of new documents and a targeted search function for archived documents.
Next-generation sequencing (NGS) enables the analysis of thousands of clinically relevant genes in a single test, within a timeframe that meets clinical requirements. It detects nucleotide substitutions, small insertions and deletions. Thanks to a procedure implemented in our laboratories, it also detects copy number variations (CNVs), i.e. deletions or duplications of one or more exons, which cannot be detected using Sanger sequencing.
Identifying the variant responsible makes it possible to establish a diagnosis, assess the prognosis and, where possible, guide the choice of treatment, as well as determine the risk of recurrence within the family.
NGS is supported by complementary technologies and methods, all of which are carried out in our laboratories.
The data generated by sequencing are processed using a proprietary bioinformatics pipeline, developed and validated in our laboratories. The pipeline is based on the Broad Institute’s BWA-GATK workflow, with optimised implementations (Sentieon or DRAGEN). It includes quality control, sequence alignment and variant identification.
The variants are then filtered according to their frequency in the population and annotated using in silico prediction tools and databases of variants associated with diseases – whether internal, public or commercial.
The first-level interpretation is phenotype-driven: based on the patient’s clinical presentation, the interpretation focuses on all the genes currently associated with the suspected conditions. The associations between genes and diseases are defined by our research and development team, drawing on the scientific literature and a system correlating phenotypes, diseases and molecular mechanisms, and are updated as new evidence becomes available; where possible, the genes are organised into related subgroups.
If the first-level analysis is inconclusive, a second-level analysis – covering the entire exome – may be carried out at the request of the specialist. As the entire exome has already been sequenced, there is no need for a new sample or further sequencing. At this stage, reverse phenotyping is applied: the process begins with the genotype, and the variants identified are assessed in close collaboration with the patient’s treating doctor, against a clinical picture reviewed together with the doctor, to verify the correspondence between genotype and phenotype. The second level requires an accurate description of the clinical phenotype and the performance of a trio analysis (proband and parents).
Variants are classified according to the ACMG/AMP (2015) criteria and subsequent ClinGen recommendations, based on population databases and gene- or disease-specific databases, R&I Genetics’ proprietary database, the scientific literature and the patient’s clinical presentation
Delivered to the requesting specialist, together with all the information required for the clinical interpretation of the genetic data.
For cases that have already been analysed, the data may be reassessed at the doctor’s request in the light of the most up-to-date knowledge.
