NGS Sequencing

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Massive parallel sequencing has revolutionised genetic testing, allowing sequence alterations (point mutations and indels) of multiple genes to be analysed in parallel, thus making it possible to increase the speed and success rate of molecular diagnosis. This technique has also evolved to enable the screening of large rearrangements. Our NGS tests include:

  • Genes selected for their phenotypic association to known syndromes described in public databases and in consulted literature.
  • Regularly updated gene selection.
  • Clinical interpretation based on public databases (such as HGMD Professional) and our own database.
  • Specific clinical recommendations in each case.
  • Possibility of reanalysis.
  • Maximum coverage.
  • Copy Number Variation (CNV) screening and confirmation by array CGH.

Given that different approaches vary fundamentally in the scope and flexibility of testing, NIMGenetics offers selective sequencing of specific gene panels or the whole exome (WES Whole Exome Sequencing).

 

ExoNIM®

Discover ExoNIM®, our exome analysis approach product based on selecting genes associated with the patient's phenotype..

Discover ExoNIM®

NIMSeq®

NIMSeq® is a solution for sequencing multiple genes in a single panel, in order to detect point mutations associated with defined disorders.

When is it indicated?

NIMGenetics recommends NIMSeq to test for syndromes with a characteristic clinical presentation and a limited number of associated genes.

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