Whitepapers Next Generation Sequencing

NGS: Full Gene Sequencing of BRCA1 and BRCA2

With the increasing use of NGS, the number of detected variants in BRCA1 and BRCA2 are increasing fast. As a consequence, the absolute numbers of Variants of Uncertain Significance (VUS) are also increasing.

This paper describes current initiatives to classify and interpret VUS in BRCA1 and BRCA2, and how laboratories can contribute to these efforts and ultimately improve the counseling of tested patients.

NGS: Changing the game
in CFTR analysis

Many testing strategies have been developed in laboratories across the world. Optimal strategies generally include what might be termed “level 1” and “level 2” testing. Until the recent application of next generation sequencing (NGS), no single-pass assay has been capable of routinely screening for all published CFTR mutations.
Authored by Stewart Payne, Consultant Clinical Scientist at UK National Health Service and Head of Molecular Genetics in the North West Thames Regional Genetics since 1995. 

Familial Hypercholesterolemia: Genetic Diagnosis and Cascade Testing Using NGS

FH is a greatly underdiagnosed autosomal disorder, with most patients suffering a cardiovascular event prior to diagnosis.
This paper offers advice on genetic testing for FH, and outlines how NGS can be used to perform cascade screening of related individuals.

Overcoming limitations in the detection of mixed chimerism

This paper highlights the importance of chimerism as a diagnostic tool for clinicians treating transplanted patients. Furthermore, the evolution of novel diagnostic tools for early detection of mixed chimerism is discussed.

Authored by Dr. Dan Hauzenberger, Medical Director of the Section for Transplantation Immunology at Karolinska University Hospital, Sweden.