Genetic testing is an important component in the management of ADPKD patients and their families. It can enable the identification of at-risk family members who require ongoing surveillance and has the potential to identify unaffected related donors. Genetic testing for ADPKD has historically been very challenging. In this educational webinar presented by Chief Medical Officer Tero-Pekka Alastalo (MD, PhD), we introduce results from our validation study (unselected cohort of patients referred for cystic kidney diseases) and discuss experience with ADPKD genetic testing.
ADPKD (Autosomal dominant polycystic kidney disease) is the most common inherited kidney disease; a multisystem disorder characterized by cysts in the kidneys and liver, hypertension, and an increased risk for extrarenal complications such as intracranial aneurysms. Approximately 50% of affected individuals develop end-stage renal disease by the age of 60 years.
ADPKD is caused primarily by mutations in two genes, PKD1 and PKD2, encoding polycystin 1 and 2, which are essential components of epithelial cilia. However, the analysis of PKD1 is technically very challenging due to its large size, high GC-content and duplication of the first 33 exons with a high degree of homology (90 – 99% identity) to six nearby pseudogenes (PKD1P1–P6).
In this educational webinar, we introduce:
- Enhanced PKD1 diagnostic performance on our in-house tailored whole exome sequencing platform.
- How this enhancement provides deep and uniform coverage through the whole PKD1 coding region with excellent mapping quality.
- The technology, quality and performance metrics for PKD1 and other genes associated with this disease.
- Results from our validation study and our experiences with patient samples analyzed at Blueprint Genetics.
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Tero-Pekka is the Chief Medical Officer, President, and a co-founder of Blueprint Genetics. He is based in San Francisco and in charge of North American operations. He designs diagnostic panels and mutation databases and works with clinical evaluation of genetic data. Tero-Pekka has a MD-PhD degree and is specialized in pediatrics and pediatric cardiology. He has a PhD in molecular and cellular biology as well. In 2007, he continued his research at Stanford University, School of Medicine. During this three year postdoctoral training, he focused on the molecular genetic mechanisms of cardiovascular diseases. He continued his cardiovascular research at the University of Helsinki as a principal investigator and the head of an academic research group.