ExoNIM2019-01-10T17:18:12+00:00

NGS ExoNIM®

ExoNIM® is the NIMGenetics platform for complete exome sequencing. The success of this technology lies in its flexibility and ability to adapt to the needs of the patient, which makes it an ideal tool in diseases of high genotypic and/or phenotypic heterogeneity. From the 19,000 genes of the patient, the genes to be studied can be selected, simultaneously or sequentially, depending on the patient’s phenotype.

NIMGenetics offers five approaches to the analysis of the sequencing results: ExoNIM® Targeted, ExoNIM® Clinical, ExoNIM® Trio, ExoNIM® Epilepsy Premium and ExoNIM® Personalized.

ExoNIM® Targeted

Exome analysis approach based on the selection of genes associated with the patient’s phenotype. After sequencing the 19,000 genes of the patient, those associated with the clinical picture are analyzed. The entire sequence is stored, which allows the realization of different sequential analyses.

ExoNIM® Targeted 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, redefining the phenotype, or describing new genes involved in the pathology under study.
  • Expandable study compatible with other ExoNIM® Approaches: ExoNIM Clinical, ExoNIM Trio or ExoNIM Epilepsy Plus.

NIMGenetics offers the specialist more than 160 designs of ExoNIM®Targeted.

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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 realization 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.

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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.

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ExoNIM® Epilepsy Plus

A global approach for the study of the different clinical forms of epilepsy that analyzes 223 genes with clinical relevance from sequencing of the complete exome (ExoNIM®).

The sequence obtained is stored, which allows the application of different analyses simultaneously or sequentially, which can be requested in different ways:

  • Targeted Study of the genes associated with a defined epileptic syndrome. Access our designs for ExoNIM® Targeted to epilepsy.
  • Address complex pathologies through the combined analysis of different designs of ExoNIM® Targeted according to the signs and symptoms of the patient. This diagnostic strategy allows combining the genes associated with epilepsy with those associated with disorders such as ASD, intellectual disability, or mitochondrial diseases, among others.
  • Any of the studies based on exonic sequencing can be expanded, through:
    • The inclusion of genes described after the analysis.
    • The realization of ExoNIM Clinical or ExoNIM Trio.

ExoNIM Epilepsy Plus forms part of our global solution to the study of the etiopathogenesis of epilepsy: NIMNET® Epilepsy

Reference: EXN5001
Delivery of results: 60 working days after receipt of sample.

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ExoNIM® Personalized

An ExoNIM® approach that allows the design of a panel of genes adapted to the needs of the specialis.

The main advantages of this approach are::

  • Possibility of extending the analysis due to the appearance of new symptoms, redefining the phenotype or inclusion or new genes involved in the studied pathology.
  • This study can be performed using the sequencing results obtained from ExoNIM®: ExoNIM® Targeted, ExoNIM® Clinical, ExoNIM® Trio or ExoNIM® Epilepsy Plus.

When is it indicated?

ExoNIM® Personalized is indicated when the specialist considers it appropriate to select specific genes for the genetic study of a specific clinical picture.

Referencia: EXN6201
Delivery of results: 60 working days after receipt of the sample.

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