Insights 4 common myths in genetic testing June 22, 2020 Interview Has the incredible growth in genetics left us with some misconceptions about testing? Laboratory Director Jennifer Schleit listed some of the common myths in genetic testing.
Insights Polycystic kidney disease (PKD1) case report February 28, 2019 Case report This case report describes a 25-year-old female diagnosed with polycystic kidney disease at 4 years of age, and a family history of ADPKD in multiple generations. Read more
Insights Clinical information can lead to finding a variant that might otherwise be missed February 28, 2019 Infographic This infographic gives concrete insights into how clinical information impacts successful genetic diagnostics. Read more
Insights Finding your role and purpose within clinical genetics Jussi Paananen · February 21, 2019 Blog Developers, software architects, data scientists – the rarest of commodities in the current hot employment market. As an employer, how do you differentiate yourself from all the other interesting opportunities out there? To me, the answer is quite simple, writes Jussi Paananen in his blog. Read more
Insights VUS – the most maligned result in genetic testing January 31, 2019 Variants of uncertain significance (VUS) are an aspect of genetic testing that is often seen as a challenge. How do I explain this result to my patient? Does this result change how I manage a patient? Senior Geneticist Jennifer Schleit described why variants are classified as a VUS and what can be done to advance reclassification. Read more
Insights The diagnostic odyssey of ultra-rare diseases: a patient’s perspective Juulia Simonen · January 29, 2019 Interview In 1998, Satu Salonen retired from her position as the head of an IT company and began her diagnostic odyssey. It took over five years to find a treatment that helps her cope with her own rare disease. She is now the president of the Finnish Association for Ultra Rare Diseases. Read more
Insights What are the benefits of choosing Whole Exome Plus test that includes the analysis of del/dups (CNVs)? Tiia Luukkonen · October 31, 2018 Interview According to Genetic Informatics Scientist Mikko Muona, a Plus analysis including del/dups is essential for whole exome-based diagnostics as it increases the diagnostic yield and can significantly decrease the time required for the diagnostic process. Read more
