Contact: Dr. Julio Martín, Molecular Genetics and PGD
IVIOMICS specialises in the diagnosis and prevention of low-frequency hereditary diseases in the general population; we offer a postnatal genetic analysis of monogenic diseases by means of a DNA sequencing genetic analysis. In those cases for which the study and characterisation of mutations are indicated, they will be complemented by MLPA, microarrays or other molecular techniques to detect gene deletions / duplications, for example.
Another of the main indications is gene screening tests for carriers or reproductive genetics. Identification of individuals who are carriers of a specific monogenic disease (for example, cystic fibrosis, spinal muscular atrophy, fragile X syndrome, etc.), allows any couple to minimise the risks of bearing offspring affected by these pathologies as part of their family planning. These studies are particularly recommended for couples undergoing assisted reproduction treatments for which gametes (ovules or spermatozoids) are used and have been donated to enhance the efficacy of these medical procedures.
Fragil X Genetic Test
CF Genetic Test