Portal
structures
Categories
Scientific domains
Techniques
- Array Comparative Genomic Hybridization - Array-CGH
- Automatic Sanger sequencing
- Conventional PCR
- Cytogenetics
- FRAXA by PCR
- FRAXA by Triplet Repeat Primed PCR
- Long PCR (mtDNA)
- Methylation-Specific Multiplex Ligation-dependent Probe Amplification - MS-MLPA
- Molecular cytogenetics
- Multiplex Ligation-dependent Probe Amplification - (MLPA)
- Next Generation Sequencing (NGS)
- Next generation sequencing - NGS
- PCR-RFLP
- Quantitative fluorescent PCR (QF-PCR)
- Real-Time PCR
Tags
5 available services
Training in Cytogenetics and Genomics
Annual 5-day course divided into theoretical, theoretical-practical sessions and 6 practical workshops, with the aim of addressing the evolution from cytogenetics to genomics, both in pre- and postnatal diagnosis and in research and forensic medicine
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.
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.
Theranostics Studies in Precision Medicine
Study of genes associated to pharmacogenomics. Study of biochemical biomarkers, like those associated to wellness.
Bioinformatic Services
Whole genome analysis | Phylogenomic analysis