Specialists of Genetico have developed and introduced in clinical practice a number of comprehensive diagnostic and screening studies to specify the status of being a heterozygous carrier of pathogenic variants associated with the most frequent autosomal recessive diseases, the knowledge of which is relevant at the stage of pregnancy planning. All the screening studies are the in-house development of Genetico.
The work in this direction continues, rare clinical cases are analyzed and recorded, and become promising developments in future.
The most common for Russia hereditary diseases and conditions (spinal muscular atrophy, cystic fibrosis, sensorineural hearing loss, Gilbert syndrome and others) can be diagnosed and many other molecular genetic tests can be performed on the basis of Genetico.
Chromosomal microarray (CMA) of abortive material is carried out to determine the reason of non-developing pregnancy. The CMA makes it possible to detect with high accuracy both aneuploidy (i.e., to identify quantitative changes in the set of embryo’s chromosomes, in particular, to confirm Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13) and others), and deletions or duplications (i.e., to reveal partial losses or insertions of additional chromosomal material).
Postnatal CMA allows the simultaneous analysis of about 1,000 functionally significant target genomic regions and the exclusion of over 250 severe genetic syndromes, which cannot be detected by conventional karyotyping.