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Mitochondrial Biomedicine and Theranostics Laboratory

Biomedical research (diagnostics & translational research) in Biochemical Genetics. Diagnostic and biomarkers' analysis for precision Medicine & diseases of energy production failure. Certified NP EN ISO 9001:2015 (#2011/CEP.3971, APCER).

Websitehttps://cnc.uc.pt/en/laboratorio-de-biomedicina-mitocondrial-e-teranostica-1
E-maillbiomit@uc.pt

6 available services

Functional studies for evaluating genetic pathogenicity

 Group of methodological assays to support Functional Genomics, an integrated analysis that aims to give a functional meaning to genetic mutations, particularly new alterations and/or of unknown significance, as a cause of disease.
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Genetic expression studies

 Characterization of mRNA. Provides reliable and reproducible characterization of total RNA and mRNA. Objective measurement of RNA quality with RIN (RNA Integrity Number).
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Study of the mitochondrial bioenergetics

 The laboratory provides functional mitochondrial testing for suspected bioenergetics disorders.
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Study of the mitochondrial genome

 Allows identification of alterations in mitochondrial DNA, which may elucidate disease and bioenergetics dysfunction. Mitochondrial biology and pathophysiology is a complex field of research, which may help to answer a broad range of questions.
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Study of the nuclear genome

 Sequencing of whole nuclear exome or individual genes (in familial/trio or individual), including bioinformatics analysis for pathogenicity evaluation. Confirmation of specific mutations.
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Theranostics Studies in Precision Medicine

 Study of genes associated to pharmacogenomics. Study of biochemical biomarkers, like those associated to wellness.
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