National Cerebral and Cardiovascular


Genetic Testing Room


Outline of the Genetic Testing Room

The Genetic Testing Room primarily conducts genetic testing regarding hereditary heart diseases and polymerase chain reaction (PCR) testing for the diagnosis of cytomegalovirus and Epstein-Barr virus infections for the management of infectious diseases after heart transplant, in light of the growing need to maximally utilize advanced testing technologies for better medical care. Specifically, we commenced genetic diagnosis of congenital long QT syndrome within the framework of the hospital-designated highly advanced medical care system. Since April 2008, we have been performing this diagnosis as a medical service covered by health insurance, accepting requests for diagnosis from across Japan. We also conduct genetic diagnostic tests for familial hypercholesterolemia, Marfan syndrome and related aortic diseases, and hereditary hemorrhagic telangiectasia. Genetic testing is implemented with cooperation from the related specialized departments at the NCVC Hospital, while considering the involved ethical issues and the protection of personal genetic information, in compliance with the regulations adopted by the NCVC's Ethics Committee.

Characteristics of the Genetic Testing Room

The Genetic Testing Room is a designated place where a broad range of genetic diagnoses, genetic testing, and nuclei acid testing are conducted. High-level testing accuracy is maintained to provide quality information to the clinical divisions, thereby contributing to the improvement of medical care at the NCVC backed by continued progress in genetic testing. Following the establishment of the Omics Research Center (ORC) within the NCVC in April 2015, the Genetic Testing Room has been working with the ORC to achieve the goal of establishing genomic medical care. Currently, a disease panel designed for clinical genetic testing is jointly being developed by the ORC and the Genetic Testing Room. As much anticipation is riding on a transition to tailor-made medical care, wherein drugs and treatment methods can be selected according to patient genotypes (genetic polymorphisms), the Genetic Testing Room vigorously pursues its operations to explore and implement new testing methods.

last updated : 2021/10/01

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