Dr. Viorica Ciorna, geneticist (CHR Metz-Thionville), Aicha Boughalem and Detlef Trost, geneticists (Cerba)
Thursday 23 March: 12:30-13:30
In order to improve the accuracy of the diagnosis of genetic diseases, a new test has been set up in the Cerba laboratory by the human genetics teams.
This is a new generation cytogenetic diagnostic test more commonly known as Optical Mapping. It allows the analysis of the chromosome structure at a high resolution (up to 500 bp) for balanced and unbalanced structural variants.
Its interest in the diagnosis of patients suffering from a rare disease and in diagnostic errancy will be demonstrated via a concrete clinical case presented by Dr. Viorica Ciorna, geneticist at the CHR of Metz-Thionville.