NGS-ExoNIM®

ExoNIM^® Targeted

Approach to exome analysis 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 complete sequence is stored, allowing different analysis to be carried out sequentially.

The main advantages of ExoNIM® Targeted are:

• 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 stud
•  
• It allows CNV screening.
• Expandable study compatible with other ExoNIM® approaches: ExoNIM® Clinical, ExoNIM® Trio or ExoNIM® Epilepsy Plus.

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

Go to genetic test search

Turnaround time: 30 working days from receipt of the sample.
Reference: Check

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

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 analysis to be carried out.

The main advantages of ExoNIM® Clinical are:

• It allows the simultaneous analysis of all genes associated with Mendelian diseases, which increases the possibilities of identifying the responsible variant in complex phenotypes through the use of artificial intelligence algorithms.
• It allows the screening of CNVs.
• This study can be performed using the sequencing results obtained from Targeted ExoNIM® or ExoNIM® Personalized.
• In case of negativity, this study can be completed with ExoNIM® Trio.

Turnaround time:30 working days from receipt of the sample.
Reference: EXN4001

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

ExoNIM^® Trio

ExoNIM® approach based on the sequencing of the 19,000 genes of the patient and their parents. The genetic information obtained makes it possible to determine the inheritance pattern in the identified variants. This approach facilitates the identification of causal variants of the patient's phenotype.

The main advantages of ExoNIM® Trio are:

• Possibility of identifying new genes not initially included in the differential diagnosis through the use of artificial intelligence algorithms and the segregation pattern of the identified variants.
• It allows the screening of CNVs.
• Maximum profitability approach in the diagnosis of neurodevelopmental disorders (greater than 30% in syndromic cases with negative results in array-CGH).
• This study can be performed from the sequencing results obtained from: ExoNIM® Clinical, ExoNIM® Epilepsy Plus, ExoNIM® Targeted / ExoNIM® Personalized.
• It allows to establish the inheritance pattern of all the identified variants
• Acceleration of the diagnostic process, avoiding unnecessary tests.

Turnaround time: 30 working days from receipt of the sample.
Reference: EXN3001

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

EXONIM® EPILEPSY PLUS

Comprehensive approach to test for the different clinical forms of epilepsy, analysing over 250 clinically relevant genes using whole exome sequencing (ExoNIM®) and CNV screening.

The sequence obtained is stored, which allows the application of different analysys 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.
• Addressing 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.
  • Completion of ExoNIM® Clinical or ExoNIM® Trio.
• ExoNIM® Epilepsy Plus is part of our global solution to the study of the etiopathogenesis of epilepsy: NIMNET® Epilepsy.

Turnaround time: 30 working days from receipt of the sample.
Reference: EXN5001

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.

EXONIM® PERSONALIZED

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

The main advantages of this approach are:

• Possibility of extending the analysis due to the appearance of new symptoms, redefinition of the phenotype or inclusion of new genes involved in the study 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 the selection of specific genes for the genetic study of a specific clinical picture as the best option.

Turnaround time: 30 working days from receipt of the sample.
Reference: EXN2001 (up to 150 genes) or EXN2002 (more than 150 genes)

Please remember to attach the Application Form and Informed Consent Form to the sample, which you will find on the right.