Genetic investigations of neurogenetic diseases, which constitute a large group of relatively frequent genetic diseases involving hundreds of diseases (muscular dystrophies, myopathies, neurological diseases, etc.), has always been a primary area of research and diagnostic activity of InterGenetics.
Historically, starting from genetic testing for spinal muscular atrophy – SMA and muscular dystrophy Duchenne/Becker, we gradually developed genetic tests for a range of neurogenetic diseases, becoming a reference center in Greece and internationally.
During its ~30 years of operation, InterGenetics has examined more than 800 clinical cases involving all kinds of neurogenetic diseases.
Recently, we added new genomic testis for uncovering the underlying genetic cause in several neurogenetic-neuromuscular disorders, such as the genomic analysis of all human genes (whole exome sequencing – WES) and various specific multi-gene panels, having already completed and successfully diagnosed a large number of complex patient cases.
It is also worth noting that InterGenetics, recognizing the importance of the prevention of these diseases, pioneered in 2012 the incorporation of genetic testing for spinal muscular atrophy – SMA in all routine prenatal chromosomal diagnosis tests, affording the diagnosis of affected fetuses (not healthy carriers).
In this context, we have tested more than 3.000 embryos and have already prevented the birth of affected children, from parents who did not know they were carriers of the disease.
InterGenetics provides the most up to date and comprehensive approach to the genetic investigation of patients and the safe guidance of families burdened with such problems.