>>>Autism and intellectual disability
Autism and intellectual disability2019-01-10T16:59:58+01:00

Autism and intellectual disability

Autism spectrum disorders (ASD) and intellectual disability are neurodevelopmental disorders (NDDs) whose origin 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 an integrated approach, in which different genetic tests potentially necessary for each patient are combined sequentially.

NIMIntegra® Neuropediatrics is the solution that NIMGenetics offers to the specialist for the genetic diagnosis of NDDs. This comprehensive solution offers, in addition to conventional technologies, genomic platforms such as array-CGH and NGS.

KaryoNIM® Postnatal 180k Autism

Array CGH designed specifically for the study of autistic spectrum disorder (ASD). Based on KaryoNIM Postnatal 180k, this design is aimed at the study of neurodevelopmental disorders and polymalformative syndromes, with a potent increase in detection capacity (15 kb) in 140 genes associated with ASD.

It analyzes with high resolution 308 OMIM syndromes and other genetic regions responsible for various pathologies. with an average resolution of 75 kb in these regions. It offers a minimum resolution of 75 kb in syndromic regions, which increases to 40 kb in those genes associated with polymalformative syndromes and 15 kb in genes linked to ASD.

KaryoNIM® Postnatal 180k Autism is part of the comprehensive approach that NIMGenetics has developed for the genetic diagnosis of neurodevelopmental disorders and epilepsy: NIMIntegra Neuropediatrics 

Reference: CGH1005
Delivery of results: 20 working days from receipt of the sample.

Contact us

ExoNIM® Targeted to Intellectual Disability

An approach to the genetic study of intellectual disability based on exonic sequencing. After the sequencing of the 19,000 genes of the patient, the study is directed to the analysis of candidate genes whose causal association with intellectual disability has been previously established. The complete sequence is stored, which allows the realization of different analyses sequentially.

ExoNIM® Targeted to intellectual disability presents the following advantages:

  • Possibility of combining panels in case of concurrent pathologies or overlapping or non-specific phenotypes.
  • Opportunity to extend the analysis due to the appearance of new symptoms, redefine the phenotype, or describe new genes involved in the pathology under study.
  • Expandable study compatible with other ExoNIM® approaches ExoNIM®: ExoNIM Clínical, ExoNIM Trio or ExoNIM Epilepsy Plus.

Contact us

ExoNIM® Targeted to Autism Spectrum Disorder

An approach to the genetic study of patients with autism spectrum disorders (ASD) based on exonic sequencing. After the sequencing of the 19,000 genes of the patient, the study is directed to the analysis of candidate genes whose causal association with ASD has been previously established. The complete sequence is stored, which allows the realization of different analyses sequentially.

ExoNIM® Targeted to ASD presents the following advantages:

  • Possibility of combining panels in case of concurrent pathologies or overlapping or non-specific phenotypes.
  • Opportunity to extend the analysis due to the appearance of new symptoms, redefine the phenotype, or describe new genes involved in the pathology under study.
  • Expandable study compatible with other ExoNIM® approaches: ExoNIM Clinical, ExoNIM Trio or ExoNIM Epilepsy Plus.

Contact us

ExoNIM® Clinical

An ExoNIM® approach that focuses on the analysis of genes with an OMIM phenotype (Online Mendelian Inheritance in Man (OMIM);The entire sequence is stored, which allows the performance of different analyses sequentially.

ExoNIM® Clinical presents the following advantages:

  • Allows the simultaneous analysis of all genes associated with Mendelian diseases, which increases the possibilities of identifying the responsible variant in complex phenotypes.
  • This study can be performed using the sequencing results obtained from ExoNIM ® Targeted or ExoNIM ® Personalized.

In cases of negative reuslts, this study can be completed with ExoNIM® Trio.

Reference: EXN4001
Delivery of results: 60 working days from receipt of the sample.

Contact us

ExoNIM® Trio

An ExoNIM® approach based on the sequencing of the 19,000 genes of the patient and the parents. The genetic information of the parents allows the determination of the inheritence pattern in the identified variants. This approach facilitates the identification of the causal variants of the patient’s phenotype.

The main advantages of this approach are:

  • Possibility of identifying new genes not initially included in the differential diagnosis.
  • A cost effective approach for the diagnosis of neurodevelopmental disorders (greater than 30% in syndromic cases with negative results in array-CGH).
  • This study can be performed using the sequencing results obtained from: ExoNIM® Clinial, ExoNIM® Epilepsy Plus, ExoNIM® Targeted or ExoNIM® Personalized.
  • Can be used to establish the inheritance pattern of all the identified variants
  • It accelarates the diagnostic process, avoiding unnecessary tests.
Reference: EXN3001
Delivery of results: 90 working days after receipt of the sample.

Contact us

Other Molecular Techniques

NIMGenetics offers genetic study services based on different molecular biology platforms, such as MLPA (Multiplex ligation-dependent probe amplification) and TRP-PCR for the study of triplet expansions. In addition, we make available to the specialist the detection of genetic alterations in mitochondrial DNA, through the application of mass sequencing techniques and MLPA.

Go to the Genetic Studies Search

Contact us

Any doubt about Autism and intellectual disability?

Send us a message


I accept the privacy policy

Do you prefer that we call you?