Both neurodevelopmental disorders (NDT) and polymalformative syndromes are characterized by a complex clinical presentation, with partial and / or overlapping manifestations.
To the difficulty of the clinical diagnosis, a high genetic heterogeneity is added, which makes it necessary to address these pathologies through the sequential combination of different genetic tests potentially necessary for each patient.
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 performance 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.
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.
Delivery of results: 60 working days from receipt of the sample.
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.
Delivery of results: 90 working days after receipt of the sample.
NIMSeq®, a solution for the sequencing of multiple genes in a single panel, for the detection of point mutations associated with defined pathologies.
When is it indicated?
NIMGenetics recommends the application of NIMSeq for the study of syndromes with a characteristic clinical presentation and with a limited number of associated genes
MLPA (Multiplex ligation-dependent probe amplification) is a technique designed for the detection of amplifications and deletions in specific genomic regions, with an exon-level resolution in the analyzed genes.
Methylation-specific MLPA (MS-MLPA) allows, together with the detection of amplifications and deletions, the identification of modifications in the methylation pattern.
Mitochondrial diseases are a group of disorders secondary to failures in the system of mitochondrial energy metabolism, the source of cellular energy.
NIMGenetics offers a wide range of sequencing and MLPA tests of mitochondrial DNA for the diagnosis of mitochondrial diseases.
Additionally, for a global approach, the study of mitochondrial DNA can be complemented with massive sequencing analysis of nuclear genes that code for proteins related to mitochondrial metabolism. For this, we offer a diagnosis using ExoNIM® directed to mitchondrial alterations secondary to nuclear DNA mutations