The investigation of the genetic causes of diseases presenting with intellectual disability, with syndromic features or developmental delay, has been a key area of research and of our diagnostic efforts.
Starting, historically, from the application of high resolution peripheral blood karyotype in the early ’80s, which was the first and main test in all children and individuals with intellectual disability and/or developmental delay, we gradually proceeded to apply molecular cytogenetic techniques through fluorescent in situ hybridization (FISH) for the detection of several syndromes associated with intellectual disability, then through the application of molecular genetic techniques for the diagnosis of Fragile X syndrome (FRAX) and finally to the pioneering applications in our country in 2007 of high resolution molecular karyotype-arrayCGH (aCGH).
These efforts culminated in the introduction of the analysis of all human genes (Whole Exome Sequencing – WES) in 2011, through the new technology of massive parallel sequencing (Next Generation Sequencing – NGS).
Over the last 30 years of operations, InterGenetics has investigated more than 2000 cases through high resolution peripheral blood karyotype and in situ fluorescent hybridization (FISH) and also has performed more than 480 molecular genetics tests for Fragile X (FRAX) and more than 200 genetic tests for mental retardation utilizing high-resolution aCGH.
Recently, InterGenetics has evolved into a reference center for this very important and sensitive type of disorders, concerning mainly young children, by adding new genomic testing options in order to uncover the underlying genetic defects in cognitive and developmental disabilities, such as genomic analysis all human genes (Whole Exome Sequencing – WES) and the genomic analysis of all X-linked disease genes associated with mental retardation in males (a comprehensive investigation of X-linked mental retardation).
It is also worth noting that InterGenetics, recognizing the importance of prevention of these diseases, pioneered in 2012 the incorporation of genetic screening for Fragile X-FRAXA syndrome in all cases of prenatal chromosomal diagnosis, thus diagnosing any affected male fetuses. In this context we have tested so far more than 1000 embryos and have already prevented the birth of affected children, due to the mother being, unknowingly, a carrier of the disease.
Joined by experienced clinicians and drawing additional experience from the investigation of genetic syndromes, applied by InterGenetics since 2002, we believe that we provide an up to date and comprehensive approach to the investigation of patients and for the safe guidance of families burdened with such problems.