Genetic testing for atrial septal defect

The EuroBiotech Journal

Dundar Munis¹  Beccari Tommaso²  Zulian Alessandra³  Bertelli Matteo⁴  Maltese Paolo Enrico⁴  Rakhmanov Yeltay⁴ 

[1] Department of Medical Genetics, Erciyes University Medical School, Kayseri, Turkey;Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy;MAGI Euregio, Bolzano, Italy;MAGI’s Lab, Rovereto, Italy;

关键词: atrial septal defect;    ostium primum;    heart murmur;    ebtna utility gene test;   

DOI  :  10.2478/ebtj-2018-0035

来源: DOAJ

【 摘 要 】

Atrial septal defect (ASD) is a congenital heart defect characterized by an opening in the atrial septum. About 1/3 of patients with Noonan syndrome caused by mutation in the PTPN11 gene have ASD. The prevalence of ASD is estimated at 100 per 100,000 live births. ASD may have autosomal dominant or recessive inheritance. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

【 授权许可】

Unknown