Malformation syndromes

Genetic malformation syndromes are a group of diseases characterised by the presence of growth disorders and are associated with deformities in various organs and/or characteristic phenotypes.

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NIMGenetics offers NIMIntegra Neuropaediatrics (Spanish) , a comprehensive solution for the genetic testing of malformation syndromes, both associated and non-associated with other neurodevelopmental disorders and/or epilepsy. This process includes every genetic test a patient could require, including the most advanced genomic platforms as well as traditional molecular diagnostic techniques.

Check our range of NGS genetic testing services for malformation syndromes here

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.


KaryoNIM®  is the NIMGenetics array CGH platform with a whole host of clinically oriented own designs that maximises diagnostic power while minimising uncertainty.

Learn more about KaryoNIM®


ExoNIM® Clinical: ExoNIM® approach that focuses on analysing genes with OMIM (Online Mendelian Inheritance in Man) phenotype. The whole sequence is stored, allowing different sequential analyses to be carried out.

ExoNIM® Trio: Whole exome sequencing (WES) test of the patient and their parents, allowing the patient’s 22,000 genes to be analysed based on their phenotype and the inheritance pattern of the identified variants. In addition to point mutations and indels, this ExoNIM® approach allows CNVs between 200kb and 10Mb in size to be studied.

Learn more about ExoNIM ®

Targeted NGS Tests

Massive parallel sequencing has revolutionised genetic testing, allowing sequence alterations (point mutations and indels) of multiple genes to be analysed in parallel, thus increasing the speed and success rate of molecular diagnosis. This technique has also evolved to be able to screen for large rearrangements.

NOur 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.
  • RSpecific 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 of the whole exome (WES, Whole Exome Sequencing).

Learn more about our targeted NGS tests


NIMGenetics offers genetic testing services based on different molecular biology techniques, including MLPA (Multiplex Ligation-dependent Probe Amplification) and TRP-PCR to test for triplet repeat expansions. We also offer specialists massive parallel sequencing and MLPA techniques to detect genetic alterations in the mitochondrial DNA.

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