NGS analysis

Hereditary diseases with low, medium and high genetic heterogeneityNGS whole-exome sequencing and interpretation with proprietary multigenic panels.

Hereditary diseases with very high genetic heterogeneityNGS 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).