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.