Blueprint Genetics (BpG) launches a genetic test for periodic fever syndromes and adds two genes into the Hyperlipidemia Panel

Published on August 6, 2014

BpG Periodic Fever Syndrome Panel – New Panel Including 9 Genes

Blueprint Genetics continues launching comprehensive next-generation sequencing (NGS) tests by releasing a best in class diagnostic panel for periodic fever syndromes (PFS). BpG Periodic Fever Syndrome Panel is the first effective genetic diagnostics tool for familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), hyper-IgD syndrome (HIDS; also known as mevalonate kinase deficiency, MKD), severe congenital neutropenia types 1 and 3, cyclic neutropenia and a spectrum of diseases known as cryopyrinopathies, namely familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and chronic infantile neurologic cutaneous articular syndrome (CINCA; also known as NOMID).

Sequencing is targeted to all protein coding exons, exon-intron boundaries and a number of disease causing intronic mutations in nine PFS associated genes: ELANE, HAX1, LPIN2, MEFV, MVK, NLRP12, NLRP3, PSTPIP1, TNFRSF1A. The excellent sequencing performance of our test (target region coverage >15x 100.00% and median coverage 232x) made it possible to launch the BpG Periodic Fever Syndrome Panel with very high diagnostic accuracy. Sensitivity and specificity of NGS Panel was 100.00% and positive predictive value 99.90%. Of note, Sanger confirmation of clinically relevant variants is included in all of the BpG’s panels.

BpG Hyperlipidemia Panel – Update

As one of our missions is to constantly improve our existing diagnostic tests, BpG Hyperlipidemia Panel is now updated with two genes: APOC2 and APOC3. In line with our other diagnostic panels, sequencing covers all protein coding exons, exon-intron boundaries and other regions with reported disease associated variants. The updated Hyperlipidemia Panel covers ten genes: ABCG5, ABCG8, APOB, APOC2, APOC3, APOE, LDLR, LDLRAP1, LPL and PCSK9.

BpG – Company Growth

Our clinical statements and interpretations as well as sequencing performance have continued to receive excellent feedback from our customers. Hospitals from 29 countries around the world are increasingly ordering BpG’s diagnostic tests and we are very happy to see that number grow. Our state-of-the-art service is based on our proprietary sequencing technology, unique bioinformatics pipeline, an advanced mutation and knowledge database, and a final interpretation performed by our team of geneticists and clinical experts. All of this is combined with the fastest turnaround time in the market.

Blueprint Genetics Team

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