JPH2 p.(Thr161Lys) is a Finnish founder mutation associating to hypertrophic cardiomyopathy with or without systolic heart failure and conduction abnormalities


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.

Shedding light on complex regions in genetics


Blueprint Academy How does in-depth understanding of difficult-to-sequence regions enable improved patient outcomes? This educational webinar provides participants insight to the most recent advancements in the area of difficult-to-sequence regions and especially, improved diagnostics of X-linked retinitis pigmentosa and spinal muscular atrophy. In this webinar, we will share our approach of customized bioinformatic and sequencing solutions.

Experience Blueprint


We are passionate about changing peoples’ lives through development of groundbreaking solutions that take genetic diagnostics from niche to mainstream – to the benefit of patients with rare inherited diseases worldwide. On this video, our team members share what makes their work rewarding, fulfilling and enjoyable.

Whole Exome Sequencing: The incredible advantage of a single test


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.