Gene diagnostics at Genome Center of Eastern Finland

Genome Center of University of Eastern Finland has provided diagnostic test for monogenic diseases and farmacogenomics since 2004. During these years we have keep our analysis methods up-to-date and improved our reporting and quality management policies. We are committed to continuosly improve our procedures to serve our customers as appropriately as possible.

What's new in analytics?

One manufacturer has discontinued manufacturing of essential polymerase enzyme.  This might cause slight delays in ’Polycystic kidney disease’ and ’21-hydroxylase deficiency’ analysis in the near future.

Deletion analysis (MLPA) of PKHD1 gene added to ’Polycystic kidney disease analysis

Deletion analysis (MLPA) of GBA gene added to ’Gaucher's disease

Diabetes related genes test (screening of the coding regions of the 104 genes) was replaced by the new tests in ’ Congenital hyperinsulinemia’, ’ Permanent neonatal diabetes mellitus’ and ’MODY diabetes’ services.

During the second half of the year 2016 we will introduce new Illumina NextSeq500 and MiniSeq instruments in gene diagnostics. These new powerful instruments open new possibilities and enable us to improve our analysis procedures.

Next generation sequencing (NGS) method has revolutionized genome analysis. NGS enables faster and cost effective targeted sequencing. Traditional Sanger sequencing is still in use but its importance has decreased.

Quality management

Our quality management system is certified to ISO 9001:2008 (Inspecta Certification, Finland, IQNet) since 2007.

Continuous maintenance and development of our operations comprises of personnel, facilities, equipment, methods, documentation, and to determining customer needs.