Clinical trials highlight the importance of correct CFTR mutation detection in cystic fibrosis patients
Cystic fibrosis is one of the most common genetic disorders. The disease is caused by mutations...
Cystic fibrosis is one of the most common genetic disorders. The disease is caused by mutations...
The autosomal recessive inherited blood disorder, b-thalassemia, is caused by reduced or absent...
Causes Thalassemias are haemoglobinopathies characterised by an abnormal haemoglobin production...
Devyser offers an online Sequence Coverage Calculator to help plan your NGS run for optimal...
The X chromosome counting markers define non-variable sequences present on the X chromosome and an...
A short tandem repeat (STR or microsatellite) is a pattern of two or more nucleotides that are...
QF PCR analysis includes amplification, detection and analysis of chromosome-specific DNA sequences...
Library preparation
Genetic testing has always been central to the thalassemia patient journey. However, conventional...
In RhD-negative mothers, anti-D prophylaxis can be withheld if the fetus is also RhD-negative....
Do you know a man who has participated at least once in “Movember”? Every year, thousands of men...
BRCA1 variants may generally be divided into three categories: benign variants, which cause no...