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.
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).