In cooperation with experts in genetic diagnostics, Devyser proudly presents a series of whitepapers on fragment analysis and next generation sequencing (NGS).
A simple NGS method for detection of sequence variants causing alpha and beta thalassemia
The Devyser Thalassemia kit has been set up and tested on Illumina sequencing platforms MiSeq and MiniSeq.
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.
NGS: Changing the game in CFTR analysis
Many testing strategies have been developed in laboratories across the world.
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.
Overcoming limitations in the detection of mixed chimerism
This paper highlights the importance of chimerism as a diagnostic tool for clinicians treating transplanted patients.
The role of chimerism monitoring following HSCT
Detecting mosaicism with QF-PCR
This paper provides straightforward advice for laboratory professionals on how to use QF-PCR to identify mosaicism in prenatal diagnostics.
Fetal RHD screening in clinical routine - experiences and considerations
This paper explores an approach which uses non-invasive prenatal testing to determine the fetal RHD status, allowing targeted administration of antenatal anti-D prophylaxis only to those who will benefit from it.
QF-PCR and maternal cell contamination
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.
QF-PCR in pregnancy loss analysis
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).
Introduction to QF-PCR
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.
A new NGS-based method for Chimerism monitoring
New, highly sensitive and precise methods for mixed chimerism analytics are transforming post-transplant monitoring, enabling earlier detection and treatment to save the lives of transplanted. He also discusses why Karolinska decided to replace their STRPCR and qPCR methods with a single, NGS-based method and the benefits achieved by doing so.
Molecular Genetics Thalassemia lab of The Cyprus Institute of Neurology and Genetics transforms testing with NGS
In this case study Dr. Papasavva describes her laboratory’s journey from traditional thalassemia testing to a state-of-the-art NGS technology and what a difference this has made in their daily work.