CENTOGENE provides rapid and comprehensive diagnosis of inherited heart diseases, by means of multi-gene panel and single gene tests, which cover most cardiology-associated genes. Genetic testing for heart diseases permits early diagnosis and the chance for prevention of severe disease outcomes, the majority of which are life threatening.
Articles on cardiology
CentoWebinar on demand - A race against the clock - Diagnosing genetic conditions in newborns and children
Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later health.
CentoWebinar on demand - CentoICU®: NGS panels for the early and fast diagnosis of critically ill newborns & children under 24 months
Genetic disorders are diseases with the most complex presentation of the most diverse symptoms and also the most severe disease courses. A precise diagnosis of the underlying condition is especially important in serious and life threatening situations as found in the intensive care setting.
Whole exome sequencing in a rare disease: A patient with anomalous left coronary artery from the pulmonary artery (Bland-White-Garland syndrome)
Anomalous origin of left coronary artery from pulmonary artery (ALCAPA), also known as the Bland-White-Garland syndrome, is a rare congenital abnormality, with an incidence of 1 in 300,000 live births. Herein we report the results of the first whole exome sequencing (WES) of an ALCAPA patient who…
Pierson Syndrome: A Case Report with a Neonatal Cardiac Association Based on a Novel Mutation in the LAMB2 Gene
Congenital nephrotic syndrome (CNS) combined with eye abnormalities including microcoria (small pupils that don’t respond to light) and abnormal lens shape can suggest a clinical diagnosis of Pierson syndrome (which mainly affects the kidneys and eyes). The clinical association of Pierson syndrome…
Fabry disease (FD) is a rare lysosomal storage disorder also affecting the heart. Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD.