Follow us...

 

Search News Archives

Channels

News

 

 

View Channel

Laboratory Products

 

 

View Channel

Special Offers and Promotions

 

Microscopy | Image Analysis

 

 

View Channel

Separation Science

 

 

View Channel

Coronavirus (COVID-19)

 

 

View Channel

Research & Case Studies

 

 

View Channel

Brochures & Literature

 

 

View Channel

 

Conferences | Events

Elucigene Partners with Congenica on New NGS Cystic Fibrosis Kit

publication date: Dec 28, 2016
 | 
author/source: Congenica

Accurate variant analysis facilitates personalised care pathways

congenicaThe emergence of new therapies that treat the causes of cystic fibrosis are creating an imperative for more accurate variant analysis. A genetic diagnosis for more than 95 per cent of patients is achievable with a new cystic fibrosis (CFTR) gene analysis kit developed by Elucigene Diagnostics, a leading developer and distributor of prenatal and human genetics diagnostics, in partnership with Congenica, a leader in genomic analysis and interpretation. The “all-in-one” kit allows sample processing, analysis with next generation sequencing (NGS) and variant interpretation streamlining the diagnostic process.

Dr Mark Street-Docherty, Commercial Manager for Elucigene Diagnostics, says: “Congenica has produced a bespoke analysis and reporting pipeline to support customers using our new targeted NGS kit for CFTR gene analysis.

“The Congenica and Elucigene partnership will provide support to CFTR diagnostics, reporting only clinically relevant information, and therefore simplifying analysis associated with competitor whole genome approaches.

“Congenica’s Sapientia™ platform will form part of our offering to the customer, enabling seamless sample processing and analysis.”

Craig Taylor, Head of Business Development for Congenica, says: “We’re very excited about partnering with Elucigene and introducing Sapientia to clinical labs around the world, enabling them to benefit from the same interpretation and analysis platform employed by leading NHS Hospitals in the UK. This partnership illustrates the flexibility of Sapientia, which can be customized according to partner needs."

Cystic fibrosis is an inherited disorder affecting approximately one in every 2,500 live births in Caucasians. It is due to mutations in a single gene (CFTR) that controls the movement of water and chloride ions across the cell membrane.

People affected by the disease experience a build-up of thickened mucus in their lungs and other organs, leading to challenging life-limiting symptoms.

Additionally, some male carriers of the condition experience reduced fertility (azoospermia) due to the congenital bilateral absences of the vas deferens (CBAVD). The CFTR gene analysis test meets the needs for fertility testing.

Over 2,000 DNA sequence variants have been identified within the CFTR gene, of which approximately 250 are classified as disease causing. Knowing the exact variant is vital, as the patient’s symptoms and response to drug treatment can vary widely depending on which mutation affects the CFTR gene. As such, this test will enable the development of personalised disease management for patients.

The new product is the first in Elucigene’s range to embrace next generation sequencing. Elucigene has developed probes specifically designed to deeply sequence, with higher confidence, the areas of the CFTR gene where the targeted variants occur. This has increased the detection rate from between 85 to 95 per cent to over 99 per cent for some populations.

The test uses a bespoke version of Sapientia including a bioinformatics pipeline that filters out non-pathogenic mutations and returns the pathogenic variant. Once the variant is identified, scientific literature regarding the consequences of that exact mutation on the patient’s phenotype and condition is made readily accessible through the platform for clinicians to consult. 

Bringing this new kit to Elucigene’s international customer base will provide a better picture of the distribution of the variants within different populations, allowing the development of personalised medicine.


more about congenica


more about elucigene


 



 

Subscribe to any of our newsletters for the latest on new laboratory products, industry news, case studies and much more!

Newsletters from Lab Bulletin

 

Request your free copies HERE

 

 

 

Popular this Month...

Our Top 10 most popular articles this month

 

Today's Picks...

 

 


 

Looking for a Supplier?

Search by company or by product

 


Company Name:

Product:


 

 

 

 

Please note Lab Bulletin does not sell, supply any of the products featured on this website. If you have an enquiry, please use the contact form below the article or company profile and we will send your request to the supplier so that they can contact you directly.

Lab Bulletin is published by newleaf marketing communications ltd.


 

Media Partners