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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.

VUS – The Most Maligned Result in Genetic Testing

January 31, 2019

Senior Geneticist, Jennifer Schleit describes why variants are classified as a VUS and what can be done to advance reclassification.

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.

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.

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.

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.

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.

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