Inborn errors of metabolism (IEM) are mainly characterised by the presence of genetic variants that cause a defect in proteins involved in metabolic cascades, resulting in an abnormal synthesis of essential products for the body and/or in the accumulation of compounds, which can be toxic in the short or long term.
Sequence alteration test (point mutations and indels) in multiple genes using massive parallel sequencing (NGS: Next-Generation Sequencing). NGS tests also involve CNV (Copy Number Variation) screening.
There are many approaches that differ fundamentally in the scope and flexibility of the test. NIMGenetics offers targeted sequencing of specific gene panels or whole exome sequencing (WES), including CNV analysis, with the possibility of reanalysis.
ExoNIM® Clínico: de 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.