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Accurately resolving copy number variation in highly homologous SMN1 and SMN2 genes using next generation sequencing and rhPCR

Jun 06, 2019

We established an accurate and high-throughput approach to test for SMN1 and SMN2 copy numbers in blood and saliva samples enabling diagnostics of SMA and application of novel therapeutic strategies.

Clinical utility of NGS panel testing in patients with a clinical suspicion of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

Jun 06, 2019

In this study a total of 134 patients with clinical suspicion of CPVT send for targeted panel testing either using Blueprint Genetics CPVT Panel or Arrhythmia Panel over a 5-year period were analyzed.

Diagnostic yield of genetic testing in an unselected cohort of 1,376 HCM patients

Jun 06, 2019

We describe the diagnostic findings and variables significantly affecting the genetic testing yield in a heterogeneous HCM patient cohort.

A WES based panel assay with boosted clinical content generates a high diagnostic yield in patients with IEDs

May 09, 2019

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.

Improved Mapping Quality and Coverage in Highly Homologous PKD1 Gene Enable High Diagnostic Yield in ADPKD

Apr 04, 2019

Research We evaluated the diagnostic yield and performance of our in-house tailored Polycystic Kidney Disease and Cystic Kidney Disease Panels.

Improved Genetic Diagnostics of RPGR ORF15 – associated Retinal Dystrophy

Dec 04, 2018

Research The exon ORF15 of RPGR is a mutational hotspot for X-linked retinitis pigmentosa (XLRP) accounting for two thirds of all disease-causing mutations. This study describes Blueprint Genetics' NGS-based diagnostic test with 100% sensitivity for variants in the difficult-to-sequence region in the ORF15.

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

Nov 30, 2018

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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