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Medical Area

  

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  • Neurologia Pediatrica

 Neurologia Pediatrica

Peroxisomal disorders
Details
Lysosomal disorders
Details
Neurodevelopmental disorders
Details
Syndromic and non-syndromic epilepsy
Details

Epilessie sindromica e non sindromica analisi estesa [1101 geni]  Code R-170
Analysis to be performed in trio

Epileptic encephalopathy [105 genes].  Code R-170S248
Analysis to be performed in trio

Febrile epilepsy [8 genes].  Code R-170S250

Focal epilepsy [26 genes].  Code R-170S251

Doose syndrome [9 genes].  Code R-170S256

EpiActionDX [101 genes].  Code R-170S303
Analysis to be performed in trio - Referral within 45 days

Eterotopia nodulare e periventricolare
Details
Leukodystrophy and leukoencephalopathy
Details
Lissencephaly
Details
Microcephaly
Details
Disorders of small cerebral vessels - stroke
Details
Ataxia
Details
Paragrafi Modificati

Ataxia extended analysis [136 genes]. Code R-177

Episodic ataxia [9 genes]. Code R-177S266

Spastic ataxia [6 genes]. Code R-177S267

Agenesis / dysplasia of the corpus callosum
Details
Cerebellar hypoplasia
Details
Mitochondriopathies (nuclear genes)
Details
Mitochondrial DNA depletion syndromes (nuclear genes)
Details
Ceroidolipofuscinosis
Details
Cortical malformations
Details
Extrapyramidal movement disorders
Details
Paragrafi Modificati

Extrapyramidal movement disorders extended analysis [137 genes]. Code R-184

Dystonia [43 genes]. Code R-184S269

Korea [18 genes]. Code R-184S286

Motor neuron diseases
Details

Spastic paraplegia [84 genes]. Code R-187S272

Ciliopathies
Details
Paragrafi Modificati

Ciliopathies extended analysis [146 genes]. Code R-188

Joubert syndrome [40 genes]. Code R-188S275

Bardet-Biedl syndrome [24 genes]. Code R-188S274

Meckel syndrome [15 genes]. Code R-188S276

Senior Loken syndrome [10 genes]. Code R-188S277

Myopathies
Details
Paragrafi Modificati

Myopathies extended analysis [210 genes]. Code R-191

Metabolic and mitochondrial myopathies [69 genes]. Code R-191S282

Congenital myopathies [46 genes]. Code R-191S281

Muscular dystrophies [36 genes]. Code R-191S306

Caterpillar dystrophies [33 genes]. Code R-191S280

Distal myopathies [31 genes]. Code R-191S279

Myasthenic syndrome [28 genes]. Code R-191S283

Non-dystrophic myotonia [8 genes]. Code R-191S284

Periodic paralysis [8 genes]. Code R-191S285

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
NF1 SALSA MLPA Probemix P081 NF1 mix 1 and 2
NF2 SALSA MLPA Probemix P044 NF2
GAA SALSA MLPA Probemix P453 GAA
D2HGDH SALSA MLPA Probemix P107 Neurometabolic
L2HGDH SALSA MLPA Probemix P107 Neurometabolic
MLYCD SALSA MLPA Probemix P107 Neurometabolic
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.
TP-PCR
Details
Ricerca espansioni gene HTT (malattia di Huntington)
Ricerca espansioni gene DMPK (distrofia miotonica di tipo 1 - DM1)
Ricerca espansioni gene FMR1 (X-Fragile)
Ricerca espansioni gene C9orf72 (SLA e demenza frontotemporale)
Ricerca espansioni gene ATXN1 (atassia SCA1)
Ricerca espansioni gene ATXN2 (atassia SCA2)
Ricerca espansioni gene ATXN3 (atassia SCA3)
Ricerca espansioni gene CACNA1A (atassia SCA6)
Ricerca espansioni gene atassia SCA7 (gene PPP2R2B)
Ricerca espansioni gene TBP atassia (SCA17)
Ricerca espansioni gene ATN1 (atassia DRPLA)

Endocrinology/Metabolism

Diabetes
Details
Paragrafi Modificati

Diabetes extended analysis [70 genes] Code R-125

Childhood-onset diabetes [34 genes]. Code R-125S225

Insulin-resistant diabetes [27 genes]. Code R-125S226

Diabetes at neonatal onset [23 genes]. Code R-125S228

MODY maturity-onset diabetes of the young [17 genes]. Code R-125S224

Dyslipidaemias
Details
Paragrafi Modificati

Dyslipidaemia extended analysis [27 genes]. Code R-126

Familial hypercholesterolaemia [4 genes]. Code R-126S229

Tubulopathies
Details
Paragrafi Modificati

Tubulopathies extended analysis [88 genes]. Code R-158

Hypophosphatemic rickets [8 genes]. Code R-158S240

Non-syndromic obesity
Details
Sexual differentiation disorders
Details
Hypercalcaemia
Details
Hypoglycaemia
Details
Hyperinsulinism
Details
Hyperphenylalaninemia
Details
Hyperparathyroidism
Details
Peroxisomal disorders
Details
Lysosomal disorders
Details
Vitamin B12 deficiency
Details
Glycosylation disorders
Details
Chylomicronemia
Details
Porphyria
Details
Hypogonadism and Kallmann syndrome
Details
Primary amenorrhoea
Details
Classical congenital adrenal hyperplasia due to 21-hydroxylase (CYP21A2) deficiency
Details
Hypobeta-abeta-lipoproteinemia
Details
Short stature
Details
Glycogenosis
Details
Ciliopathies general panel
Details
Primary ciliary dyskinesia
Details
Congenital hypothyroidism
Details
Adrenogenital syndrome
Details
Hypoparathyroidism
Details
Hypertriglyceridemia
Details
Hyperaldosteronism
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
CDKN2B SALSA MLPA Probemix P419-B1 CDKN2A/2B-CDK4
SHOX SALSA MLPA Probemix P018 SHOX
CYP21A2 SALSA MLPA Probemix P050 CAH
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.
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Sample preparation

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.

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Reporting

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.

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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 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.

 

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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 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.

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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 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.

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Method of analysis

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.

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Bioinformatics process

Analysing data from NGS sequencing is a complex process that requires IT and human resources, such as processing servers and specialised personnel, as well as advanced software. The automated and proprietary bioinformatics pipeline developed and used by R&I Genetics enables rapid, reliable and highly accurate results.

The bioinformatics analysis adopted, developed and validated by R&I Genetics, is based on the Broad Institute's BWA-GATK pipeline but with more efficient calculation algorithms and an enterprise-level software implementation provided by Sentieone/o Dragen.

In addition to incorporating state-of-the-art algorithms for quality control, alignment and variant calling, the pipeline also employs filtering steps to remove common variants based on allele frequencies in population cohorts. Furthermore, the functional consequence of amino acid changes is predicted using several in silico tools, increasing the accuracy in identifying potentially pathogenic variants.

To further support the variant interpretation process, results are compared to a comprehensive set of disease-related mutation databases, collected and curated in-house, as well as databases accessible from public sources or licensed from commercial vendors. In summary, our bioinformatics pipeline is designed to provide our requesting physicians with complete and accurate information in the shortest possible time.

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Interpretation

The final step in the analysis process is the interpretation of data and classification of variants. R&I Genetics' interpretation strategy consists of exome sequencing and the use of internally developed gene panels (virtual gene sets), which are targeted, in relation to the clinical phenotype, to search for variants in genes that may be the cause of a given genetic disease. The effectiveness of gene panels depends on the choice of genes and the construction strategy adopted.

The genes included in the different panels are chosen following a thorough analysis of the scientific literature and a detailed system based on the association of possible clinical phenotypes to different diseases and underlying molecular mechanisms developed by the R&I Genetics R&D team.

The panel construction strategy involves, where possible, specific sub-systems of genes that identify, for example, specific pathologies in correlation with each other according to hierarchical interactions.

In a diagnostic context, variant classification is essential for making informed clinical decisions. Proper classification of variants is crucial for proper patient management and obtaining the best possible results. Without a thorough interpretation and evaluation of sequencing data, the results of genomic analysis risk being meaningless.

R&I Genetics has developed a variant classification scheme that follows the guidelines and interpretation criteria established by the American College of Medical Genetics and Genomics (ACMG 2015, 2017 and subsequent supplements), the industry standard for clinical genetic diagnostic laboratories.

Our interpretation schemes have been validated with tens of thousands of rare disease patients. Variants are evaluated using population and gene/disease-specific databases, R&I Genetics' proprietary internal variant database, numerous public and commercial mutation databases, and the appropriate scientific literature. The patient's medical history and any identified variants are reviewed together with the relevant medical and genetic literature.

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The Report

The report, which is delivered exclusively to the requesting specialist physician, contains all the information that enables the clinician to interpret and evaluate the genetic data.

The results related to the clinical question are reported in the 'Primary outcome' section, followed by a technical commentary, analysis of the most significant literature and classification of variants according to ACMG.

In the 'Secondary result' section, any variants indicating the proband's carrier status are reported, which is very important for the patient's family.

Finally, the report contains all the genes analysed and the relevant technical analytical information to guarantee the quality level of the analysis conducted.