Genetic testing is an important component in the management of Autosomal Dominant Polycystic Kidney Disease (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 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.
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 Executive Director of Medical, and also a co-founder at Blueprint Genetics. He is based in San Francisco and holds various responsibilities in the North American operations of the company. Tero-Pekka has an MD-PhD degree and is specialized in pediatrics and pediatric cardiology. He has a PhD in molecular and cellular biology as well. During his 3-year postdoctoral training at Stanford University School of Medicine, he focused on the molecular genetic mechanisms of cardiovascular disease.