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A simple NGS method for detection of sequence variants causing alpha and beta thalassemia

One oligo-mix to detect virtually all known variants for α- and β-thalassemia.

Familial hypercholesterolemia: Genetic diagnosis and cascade testing using NGS

At present, FH is greatly underdiagnosed, and most cases are not discovered.

The role of chimerism monitoring following HSCT

Today HSCT is still the only curative treatment for patients with malignant or non-malignant hematological diseases.

Overcoming limitations in the detection of mixed chimerism

This paper highlights the importance of chimerism as a diagnostic tool for clinicians treating transplanted patients.

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.

Fetal RHD screening in clinical routine

Fetal RHD status can be determined with non-invasive prenatal testing, allowing administration of antenatal.

Introduction to QF-PCR

A straightforward overview for laboratory professionals on how to operate a high-quality QF-PCR service — from basic set up to best.

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.

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.

NGS: Changing the game in CFTR analysis

Many testing strategies have been developed in laboratories across the world.

CING of Cyprus transforms thalassemia testing with NGS

Dr. Papasavva describes her laboratory’s journey from traditional thalassemia testing to a state-of-the-art NGS technology and the difference this has made in their daily work.

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.

Guide to implementing NGS - simpler, faster, better

This guide addresses frequently asked questions and highlights key factors to consider when adding a new NGS test to your offering.