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 25-year-old female diagnosed with polycystic kidney disease at 4 years of age, and a family history of ADPKD in multiple generations.
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.
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.
Case report
This case report describes a 60-year-old male with spinal muscular atrophy type III diagnosed at the age of 27 years based on electromyoneurography (ENMG) and muscle biopsy findings.
Research
The role of the JPH2 gene in cardiomyopathies has been obscure as only one rare variant segregating with any type of cardiomyopathy has been published (Sabater-Molina M et al., Clin Genet. 2016). This study characterizes the cardiac phenotype related to JPH2 c.482C>A, p.(Thr161Lys) variant in nine Finnish index patients and their family members.
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