At the beginning of April Sequoia Genetics specialists (Alkor Bio Group of companies, St-Petersburg) visited 2 laboratories in Portugal - Laboratory of Molecular Genetics IPATIMUP (The Institute of Molecular Pathology and Immunology of the University of Porto) and Human Genetics Lab in STABVIDA (Lisbon) - within the framework of preparation for Neonatal NGS-based diagnostics assay validation.

The aim of Neonatal NGS-based diagnostics project is the development of complex diagnostic solution based on NGS-sequencing for the detection of three severe inherited diseases (cystic fibrosis, phenylketonuria, galactosemia) in newborns and carrier state in couples planning a family.

IPATIMUP - is a private non-profit association of public utility established under the aegis of the University of Porto. The IPATIMUP aims to understand the causes and evolution of human oncologic diseases to go forward in the early diagnosis, maximize the treatment efficiency, improve the quality of patient's life and reduce the cancer incidence in the population. Besides other methods of molecular biology IPATIMUP specialist also use NGS-sequencing on Ion Torrent PGM platform (sequencing machine which Sequoia genetics specialists use to develop their diagnostic solution).

STABVIDA - is the profit company providing a wide range of services for molecular biology, including the oligonucleotide synthesis, Sanger sequencing, antibody production. Laboratory of Human Genetics of STABVIDA performs genetic analysis for detection Alzheimer disease, celiac disease, paternity testing, lactose intolerance tests etc. STABVIDA specialists also carry out genome analysis on Ion Torrent PGM for metagenomic studies, mutation detection, bacterial genome sequencing, targeted re-sequencing and other projects. STABVIDA works in Portugal, Italy, Spain, Brazil and Mexico.

Laboratory of Molecular Genetics IPATIMUP and Laboratory of Human Genetics of STABVIDA have all necessary equipment and human resources for Neonatal NGS-based diagnostics project validation. The laboratories are certified for performing molecular-genetic studies. Sequoia Genetics is planning to validate its solution using clinical samples with cystic fibrosis, phenylketonuria, galactosemia and samples from carriers of these diseases.