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.

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.