Autism spectrum disorders (ASD) and intellectual disability are neurodevelopmental disorders (NDD), the origin of which may be secondary to genetic alterations. NDDs present a broad spectrum of clinical manifestations, with overlapping signs and symptoms.
The high genetic heterogeneity observed in NDDs requires a comprehensive approach, with the sequential combination of different genetic tests potentially required for each patient.
We offer NIMIntegra® Neuropaediatrics to specialists as the genetic testing solution for NDDs. In addition to conventional technologies, this comprehensive solution offers genomic platforms such as array CGH and NGS.
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:
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.
Genetic testing approach for intellectual disability based on analysing candidate genes where a causal association with intellectual disability has been previously established. Storing the whole sequence allows different sequential analyses to be carried out.
Genetic testing approach for autism spectrum disorder (ASD) patients based on analysing candidate genes where a causal association with ASD has been previously established. Storing the whole sequence allows the analysis to be broadened due to the onset of new symptoms, redefinition of the phenotype or description of new genes involved in the pathology being tested.
de 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.
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.
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.
