Decoding Lynch Syndrome: The Clinical Imperative for Improved Genetic Testing
This whitepaper discusses the importance of genetic testing for Lynch syndrome, exploring the clinical impact of successful and unsuccessful Lynch syndrome testing, and the potential of emerging technologies to improve patient outcomes.
Detecting technically challenging PMS2 variants with NGS: Current techniques and future perspectives
In this whitepaper, we will discuss the importance, challenges, and techniques for detecting PMS2 variants and the implications for individuals with Lynch syndrome.
Improving Survival Rates for Patients Undergoing HSCT and the Role of NGS Testing
This report discusses the potential for modern NGS-based methods to improve the management of patients after HSCT.
Five IVDR challenges: What impact does IVDR have on your laboratory?
This whitepaper provides valuable insights into the key challenges and implications of IVDR compliance.
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.
Overcoming limitations in the detection of mixed chimerism
This paper highlights the importance of chimerism as a diagnostic tool for clinicians treating transplanted patients.
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.
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.
Fetal RHD screening in clinical routine
Fetal RHD status can be determined with non-invasive prenatal testing, allowing administration of antenatal.
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.
NGS: Changing the game in CFTR analysis
Many testing strategies have been developed in laboratories across the world.
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: Full gene sequencing of BRCA1 and BRCA2
With the increasing use of NGS, the number of detected variants in BRCA1 and BRCA2 are increasing.
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.
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.