Image: The two step amplification process involved in Multiplex Amplification of Specific Targets for Resequencing (MASTR) assay technology (Image courtesy of Multiplicom).
A blood test has been developed which will determine the genetic risk of Sudden Cardiac Death (SCD) which affects one in a thousand people, and it is especially healthy young individuals who are affected by SCD.
Genetic predisposition plays an important role as family members of affected individuals have a 50% risk of inheriting the same genetic predisposition to develop cardiac disease and therefore early detection of hereditary heart disease in high-risk families can save lives.
Scientists at University of Antwerp (Belgium) working with clinicians at the Antwerp University Hospital (Belgium) have been using a new molecular genetic test to determine the risk of SCD. Patients and family members are seen by a multidisciplinary team of geneticist, cardiologist and psychosocial workers. This collaboration offers the opportunity to answer both genetic and cardiological questions during the same clinic visit. Moreover, both the clinical and genetic work-up of families is streamlined to the benefit of the patient.
The genetic test is called PED MASTR (Multiplicom; Niel, Belgium) and is already in use at the center of medical genetics of the University of Antwerp and the Antwerp University Hospital and will be launched worldwide from September 2014. With the development of the PED MASTR it has become feasible and fast to fully analyze the high number of genes involved for SCD causing mutations.
Multiplicom’s Multiplex Amplification of Specific Targets for Resequencing (MASTR) assays enable multiplex polymerase chain reaction (PCR) amplification of all required coding sequences of the genes of interest in a limited number of PCR reactions. Further downstream pooling of DNA amplicons and barcoding individual samples of the MASTR assays with contemporary massive parallel sequencing (MPS) technologies, allows simple, high throughput and cost-effective sequencing for both research and diagnostic purposes.
Dirk Pollet, PhD, the CEO of Multiplicom, said, “This new kit, using our MASTR technology, comprising 51 genes, allows physicians to identify all genetic mutations at once and use this information to propose appropriate treatment. This has been a unique project, bringing together the expertise of clinicians, geneticists and diagnostic developers to deliver to society a product that will save young lives.” The clinical scientists noted that: “This test nicely complements our existing clinical cardiac- and genetic expertise and offers the option to presymptomatic but mutation-carrying individuals to implement preventive measures to avoid SCD.”
University of Antwerp
Antwerp University Hospital