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4bases announces the readiness of a CFTR mutations detection solution

4bases reach new milestone in their collaboration with Oxford Nanopore to enable decentralised, flexible sequencing scalability for clinical researchers in Italy and Switzerland.

4bases, a Switzerland-based company, specialised in development of IVD kits for sequencing and bioinformatic tools today announce the next step in their collaboration to make 4bases kits available with Oxford Nanopore sequencing technology: the validation of the cystic fibrosis transmembrane conductance regulator (CFTR) panel. This will offer the possibility of same day sample-to-answer results for the analysis of the CFTR gene in the characterisation of hereditary variants. 

CFTR 4bases’ panel is now compatible with Oxford Nanopore’s devices, which start from $1000 for a MinION starter pack, expanding access to accurate, fast and affordable sequencing for clinical research labs.

Internal studies using commercial standards, have shown 100% concordance identifying the genetic variants of/associated with the CFTR gene, when compared to gold standard methods . Translational research studies using clinical samples are underway in multiple sites.

Sequencing CFTR

Mutations in the CFTR gene may cause the CFTR protein to malfunction or not be produced, leading to a build-up of thick mucus, which in turn leads to persistent lung infections and multi-organ complications. More than 2200 causative mutations of cystic fibrosis have been described. The CFTR panel allows the detection of all variants, known and unknown, with a single test.

In healthcare, the importance of genomic characterisation is reflected in the timeliness of diagnosis via newborn screening, in carrier screening in asymptomatic patients, in the diagnosis of CFTR-related diseases and in the possibility of directing the therapeutic path. 

To address an unmet need for workflows that can rapidly sequence CFTR in a matter of hours or days, Oxford Nanopore and 4bases will now release an end-to-end research workflow using 4bases kits and Oxford Nanopore sequencing devices. 

The 4bases kit targets the CFTR gene using PCR to generate amplicons compatible with Oxford Nanopore’s built-in short fragment mode (SFM) sequencing. Following nanopore library prep and sequencing, 4eVAR, the 4bases proprietary cloud-based solution for data analysis, identifies variants present in the gene, to provide a report listing the mutations to the end user. 

Fabio Grandi, CEO, 4bases, commented:

“We’re thrilled to reach this new milestone in the collaboration with Oxford Nanopore that will be followed by many others with the objective of enabling decentralised, flexible scalability with a significant decrease in turnaround time for clinical researchers resulting in an always better patient management.”

About 4bases

4bases is a Swiss based company with a production facility in Italy, specialized in the development, production and commercialization of clinically validated for diagnostic purpose reagent kits for NGS. It was launched in 2013 to address increasing medical needs in the fields of prevention and precision medicine. 4bases is an ISO13485:2016 certified company and works according to the European directive on in vitro diagnostic medical devices. (CE – IVD). 4bases’ mission is to offer clinically validated and cost-effective solutions to healthcare professionals who perform or rely on diagnostic genetic tests. 4bases vision is that as both precision and preventive medicine will develop significantly in the next years the need for clinically validated diagnostic genetic tests for somatic and germinal analyses will strongly increase. 4bases is therefore continuously developing new solutions both as companion diagnostics and for gene mutations. 4bases plan is to accelerate its development program through commercial and technological partnership. 

Contact: info@4bases.ch


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