Autism, intellectual disability and other neurodevelopmental disorders


The high genetic heterogeneity observed in NDDs requires a comprehensive approach.

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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.

KaryoNIM® POSTNATAL 180K AUTISM

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® Postnatal 180k Autism

ExoNIM® TARGETED FOR INTELLECTUAL DISABILITY

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.

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ExoNIM® TARGETED FOR AUTISM SPECTRUM DISORDERS

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.

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ExoNIM® Clinical

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.

CLearn more about ExoNIM® Clinical

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® Trio

OTHER MOLECULAR DIAGNOSTIC 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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