During this webinar, our molecular geneticists Jennifer Schleit (PhD, Senior geneticist) and Lucia Guidugli (PhD, Director of molecular genetics), will present some of their most challenging cases, will walk you through each step of the analysis process, and describe how they arrived at a specific molecular diagnosis.
Webinar
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?
Research
We developed and validated a robust WES based genetic testing platform, with boosted clinical content tailored to inherited eye diseases (IEDs), and assessed the diagnostic yield of this assay in a large cohort of patients with IED.
Clinical Liaison Kim Gall (MSc, CGC, LGC) gave a talk on Improved Diagnostic Yield in Rare Hereditary Disorders and Meeting Clinical Needs Using Customized Whole Exome Sequencing Solutions at ACMG 2019. Find out about whole exome sequencing (WES) platforms and the customizations we have made in an effort to increase diagnostic yield.
Interview
Selecting the appropriate panel for a patient can be difficult. “Not every patient fits into a neat phenotypic box or meets diagnostic criteria. WES removes the difficulty of trying to find the right panel for your patient as all protein-coding genes are covered in one single test", says senior geneticist Jennifer Schleit. There are many important factors to consider when choosing a whole exome test for your patient.
Webinar
In this educational webinar presented by Chief Medical Officer Tero-Pekka Alastalo (MD, PhD), we introduce results from our validation study and discuss experience with ADPKD patients.
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 Chief Technology Officer Jussi Paananen in his blog.
Case report
This case report describes a young adult who presented as an infant with feeding difficulties, growth retardation, recurrent infections, dysmorphic features and multiple congenital anomalies including bilateral coloboma and bilateral choanal atresia.
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 describes why variants are classified as a VUS and what can be done to advance reclassification.
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