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.
In cooperation with experts in genetic diagnostics, Devyser proudly presents a series of whitepapers on next-generation sequencing (NGS) and capillary electrophoresis. A source of inspiration for laboratory professionals, they offer solid advice on actual problems and ideas for future use.
Introduction to QF-PCR by 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
Given the significance of mosaicism to prenatal diagnosis, it is clear that any technique used in the diagnosis of aneuploidy in prenatal samples should be able to detect aneuploid mosaicism. With these criteria in mind, the use of quantitative fluorescence-PCR (QF-PCR) analysis is suitable (see Expert Review 01: An introduction to QF-PCR).
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
The ability of QF-PCR to identify Maternal Cell Contamination (MCC) in uncultured Amniotic Fluid (AF) and Chorionic Villi (CV) offers a real benefit over both Fluorescence in Situ Hybridisation (FISH) analysis of interphase nuclei and other molecular methods of rapid aneuploidy diagnosis such as MLPA and BACs-on-Beads (BoBs), where MCC of samples from female pregnancies cannot be detected.
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. The paper includes useful sections on: current technologies, QF-PCR analysis in routine practice, special considerations and more. Authored by Dr. Helen White, Senior Clinical Lecturer at the UK National Genetics Reference Laboratory (Wessex).
NGS: Changing the game in CFTR analysis by Dr. Stewart Payne
This paper provides straightforward advice for laboratory professionals on how to implement NGS for routine CFTR diagnostics. Authored by Dr. Stewart Payne, Consultant medical scientist in the UK NHS, it includes useful sections on: CFTR testing strategies, level 1 and level 2 testing, NGS testing strategies, interpretation of CFTR mutation data, CFTR diagnostics and targeted therapies and much more.