NIMGenetics offers genetic study services based on different molecular biology platforms, among which are MLPA (Multiplex ligation-dependent probe amplification) and TRP-PCR for the study of triplet expansions. In addition, we make available to the specialist the detection of genetic alterations in mitochondrial DNA, through the application of mass sequencing techniques and MLPA.
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.
NIMGenetics makes specialist Sanger sequencing available for genetic studies in three different scenarios:
- Peripheral blood postnatal study for the partial to total sequencing of the gene requested by the specialist.
- Prenatal study in amniotic fluid or chorionic villus biopsy for the analysis of a variant reported in one of the parents and confirmed at NIMGenetics.
- Segregation studies necessary to determine the inheritance pattern of a variant identified in the patient. The results obtained will allow the exclusion or confirmation of its association with the phenotype.
Study performed by TRP-PCR (Triplet Repeat Primed PCR) for the study of triplet expansions, which constitute a group of dynamic mutations mainly associated with neurodegenerative diseases.