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).


GENONIM®, Whole-Genome Sequencing (WGS)

GenoNIM® is our Whole Genome Sequencing (WGS) service, a comprehensive tool available to clinicians and researchers that allows the joint identification of changes in the genomic and mitochondrial DNA sequence, referring to intronic and exonic variants, changes in copy number (CNVs), structural variants (such as rearrangements) or expansions.

Whole Genome Sequencing (WGS) is the most comprehensive tool for tackling highly complex projects, identifying a broad spectrum of biomarkers in DNA, such as:

  • Single Nucleotide Polymorphisms (SNPs)
  • Insertions and deletions (Indels)
  • Structural variants (SV)
  • Copy Number Variants (CNVs)

Genome sequencing based on total DNA fragmentation allows us to analyze regions that, due to their high complexity, are not accessible with capture systems used to prepare exome libraries or panels, revealing regions that cannot be analyzed using other technologies.

While this method of sequencing is commonly associated with human genomes, the scalable and flexible nature of NGS makes it equally useful for sequencing any species, animal, plant, or microbial.


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

Discover ExoNIM®


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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