Study of the nuclear genome

Several types of samples can be studied. Tipically, LBioMiT analyses the following tissues: blood/lymphocytes, muscle, myocardium, liver, skin/fibroblasts.

However, some tests are more specific in the tissues in which we can perform it.

The DNA/RNA can be extracted at LBioMiT (preferential) or we can perform the analysis in a DNA/RNA sample extracted previously and outside the laboratory.

Analysis of bioinformatics genomic results to evaluate what may be the pathogenic cause of disease, regarding the clinical information of the patient, and/or for research purposes. For nuclear and/or mitochondrial genome. LBioMiT specializes, regarding bioinformatic analysis, in gene panels associated with mitochondrial/metabolic disorders and others of clinical exome.

The whole exome can be analysed only in the patient/case study. However, it can be useful to perform the "Familial case study", also refered as Trio analysis. Tipically, this analysis studies the two parents and their progeny, to better clarificate the genetical findings and its pathogenecity/possibility of being disease causing.

There is always the possibility of studying only the patient/case at hand. The family/trio study is beneficial to better understand genetic findings, but it is still possible to analyze the results without them and find a possible cause of disease. If the trio is not possible, the analysis of only one parent can still benefit the understanding and analysis.

There are several cases where the study of mitochondrial DNA can be relevant.