In cooperation with experts in genetic diagnostics, Devyser proudly presents a series of whitepapers on fragment analysis and next generation sequencing (NGS).
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.
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.