alexa Abstract | Clinical Validation of a Next Generation Sequencing Panel Test for Hereditary Colorectal Cancer
ISSN: 2168-9784

Journal of Medical Diagnostic Methods
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Research Article Open Access

Abstract

Background: Application of next generation sequencing (NGS) is revolutionizing the clinical molecular diagnostics industry. As this occurs, guidelines for validating NGS processes are limited, non-specific, and rapidly evolving. NGS validation projects are complex and expensive, so the validation experiments must be carefully considered, while being certain all current and evolving regulatory requirements are met.

Methods: We validated an end-to-end genetic testing process for a 16-gene hereditary colorectal cancer NGS panel. Global work flow was designed to provide high quality sequencing data for 100% of our targeted regions. Assay parameters tested were accuracy, precision, reportable range, reference range, analytical sensitivity, and analytical specificity.

Results: Five instrument runs were conducted, encompassing 115 samples, through an end-to-end process validation. Overall accuracy of the NGS portion of the assay was 99.98%. Single nucleotide variant detection accuracy was 100%. Insertion/deletion variant (INDEL) detection accuracy was 100% for INDELs of one to eight nucleotides and 97% overall (range one to 14 nucleotides) by NGS. There were no false negatives within our data set for a sensitivity of 100%.

Conclusion: Given the relative novelty of NGS in the clinical setting and rapidly evolving external guidance, clinical laboratories must develop their own strategies to design, develop, validate, and implement NGS assays. Our experiences highlight a chosen strategy as well as some of the benefits and limitations of NGS.

To read the full article Peer-reviewed Article PDF image | Peer-reviewed Full Article image

Author(s): Ferber MJ, Peterson LM, Blommel JH, Fadra NM, Thomas BC, et al

Keywords

Adrenocortical Carcinoma, Biopsy, Clinical Diagnostic Test, Computed Tomography, Cancer

Share This Page

Additional Info

Loading
Loading Please wait..
 
 
 
 
Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords