NIMGenetics offers NIMIntegra Neuropaediatrics (Spanish) , a comprehensive solution for the genetic testing of malformation syndromes, both associated and non-associated with other neurodevelopmental disorders and/or epilepsy. This process includes every genetic test a patient could require, including the most advanced genomic platforms as well as traditional molecular diagnostic techniques.
Check our range of NGS genetic testing services for malformation syndromes here
KaryoNIM® is the NIMGenetics array CGH platform with a whole host of clinically oriented own designs that maximises diagnostic power while minimising uncertainty.
Massive parallel sequencing has revolutionised genetic testing, allowing sequence alterations (point mutations and indels) of multiple genes to be analysed in parallel, thus increasing the speed and success rate of molecular diagnosis. This technique has also evolved to be able to screen for large rearrangements.
NOur NGS tests include:
Given that different approaches vary fundamentally in the scope and flexibility of testing, NIMGenetics offers selective sequencing of specific gene panels or of the whole exome (WES, Whole Exome Sequencing).
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 analyses to be carried out.
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.
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.
