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 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
Insights Whole Exome Sequencing: The incredible advantage of a single test October 30, 2018 When should you consider WES for your patient? “Patients with early onset, multiorgan involvement are more likely to have a genetic cause for their symptoms and therefore are more likely to receive a diagnosis through WES”, says Kim Gall, Clinical Liaison at Blueprint Genetics. Read more
Insights Quality guide: What to consider when choosing a testing platform for your patient October 22, 2018 Guide This guide aims to give insight to why different quality numbers matter and how they translate to the clinic. This guide includes case examples, and will provide a quick and easy checklist for quality when choosing a testing platform. Read more
Insights Bigger isn’t better: A lesson learned from genes of uncertain significance Julie Hathaway · October 12, 2018 Blog While rapid advances in diagnostic technology have broadened the testing options available to clinicians, this has come at the cost of increasing uncertainty, writes Julie Hathaway in her blog. Read more
Insights How clinical information impacts successful genetic diagnostics Juulia Simonen · August 28, 2018 Sometimes, a few sentences about the clinical history of the patient can make or break the case for the geneticist. Professor Helena Kääriäinen (MD, PhD) and Eveliina Salminen (MD, PhD) explained why. Read more
