Whitepapers

In cooperation with experts in genetic diagnostics, Devyser proudly presents a series of whitepapers on fragment analysis and next generation sequencing (NGS)A source of inspiration for laboratory professionals, they offer solid advice on current problems and ideas for future use.

Fragment Analysis

Introduction to QF-PCR
by Dr. Kathy Mann

 

This paper provides straightforward advice for laboratory professionals on how to operate a high-quality QF-PCR service — from basic set up to best practice guidelines. 

Authored by Dr. Kathy Mann, the pioneer in prenatal QF-PCR analysis, it includes useful sections on: assay design, sample processing, limitations and much more.

Detecting Mosaicism with
QF-PCR by Dr. Kathy Mann

 

This paper provides straightforward advice for laboratory professionals on how to use QF-PCR to identify mosaicism in prenatal diagnostics. 

Authored by Dr. Kathy Mann, the pioneer in prenatal QF-PCR analysis, it includes useful sections on: origin, detection and incidence of mosaicism and more.

QF-PCR and Maternal Cell Contamination by Dr. Kathy Mann


This paper offers solid advice for laboratory professionals on using a QF-PCR-based approach to identify maternal cell contamination in uncultured AF and CV samples. 
 
Authored by Dr. Kathy Mann, the pioneer in prenatal QF-PCR analysis.

QF-PCR in Pregnancy Loss Analysis by Dr. Helen White

This paper provides insights for laboratory professionals on the advantages of using extended QF-PCR in the genetic analysis of pregnancy loss samples.

Authored by Dr. Helen White, Senior Clinical Lecturer at the UK National Genetics Reference Laboratory (Wessex).

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