Genetic testing for tetralogy of Fallot
Tetralogy of Fallot (ToF) combines congenital cardiac defects including ventricular septal defect, pulmonary stenosis, an overriding aorta and right ventricular hypertrophy. Clinical manifestation of this defect depends on the direction and volume of shunting of blood through the ventricular septal...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Sciendo
2018-09-01
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| Series: | The EuroBiotech Journal |
| Subjects: | |
| Online Access: | https://doi.org/10.2478/ebtj-2018-0043 |
| _version_ | 1818731841272676352 |
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| author | Rakhmanov Yeltay Maltese Paolo Enrico Marinelli Carla Beccari Tommaso Dundar Munis Bertelli Matteo |
| author_facet | Rakhmanov Yeltay Maltese Paolo Enrico Marinelli Carla Beccari Tommaso Dundar Munis Bertelli Matteo |
| author_sort | Rakhmanov Yeltay |
| collection | DOAJ |
| description | Tetralogy of Fallot (ToF) combines congenital cardiac defects including ventricular septal defect, pulmonary stenosis, an overriding aorta and right ventricular hypertrophy. Clinical manifestation of this defect depends on the direction and volume of shunting of blood through the ventricular septal defect and the associated right ventricular and pulmonary artery pressures. ToF accounts for 3-5% of congenital heart defects or 0.28 cases every 1000 live births. ToF has autosomal dominant inheritance. This Utility Gene Test was developed 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. |
| first_indexed | 2024-12-17T23:24:05Z |
| format | Article |
| id | doaj.art-2180c819643646e7aca68ad3404633d4 |
| institution | Directory Open Access Journal |
| issn | 2564-615X |
| language | English |
| last_indexed | 2024-12-17T23:24:05Z |
| publishDate | 2018-09-01 |
| publisher | Sciendo |
| record_format | Article |
| series | The EuroBiotech Journal |
| spelling | doaj.art-2180c819643646e7aca68ad3404633d42022-12-21T21:28:49ZengSciendoThe EuroBiotech Journal2564-615X2018-09-012s1717310.2478/ebtj-2018-0043ebtj-2018-0043Genetic testing for tetralogy of FallotRakhmanov Yeltay0Maltese Paolo Enrico1Marinelli Carla2Beccari Tommaso3Dundar Munis4Bertelli Matteo5MAGI’s Lab, Rovereto, ItalyMAGI’s Lab, Rovereto, ItalyMAGI’s Lab, Rovereto, ItalyDepartment of Pharmaceutical Sciences, University of Perugia, Perugia, ItalyDepartment of Medical Genetics, Erciyes University Medical School, Kayseri, TurkeyMAGI’s Lab, Rovereto, ItalyTetralogy of Fallot (ToF) combines congenital cardiac defects including ventricular septal defect, pulmonary stenosis, an overriding aorta and right ventricular hypertrophy. Clinical manifestation of this defect depends on the direction and volume of shunting of blood through the ventricular septal defect and the associated right ventricular and pulmonary artery pressures. ToF accounts for 3-5% of congenital heart defects or 0.28 cases every 1000 live births. ToF has autosomal dominant inheritance. This Utility Gene Test was developed 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.https://doi.org/10.2478/ebtj-2018-0043tetralogy of fallotebtna utility gene test |
| spellingShingle | Rakhmanov Yeltay Maltese Paolo Enrico Marinelli Carla Beccari Tommaso Dundar Munis Bertelli Matteo Genetic testing for tetralogy of Fallot The EuroBiotech Journal tetralogy of fallot ebtna utility gene test |
| title | Genetic testing for tetralogy of Fallot |
| title_full | Genetic testing for tetralogy of Fallot |
| title_fullStr | Genetic testing for tetralogy of Fallot |
| title_full_unstemmed | Genetic testing for tetralogy of Fallot |
| title_short | Genetic testing for tetralogy of Fallot |
| title_sort | genetic testing for tetralogy of fallot |
| topic | tetralogy of fallot ebtna utility gene test |
| url | https://doi.org/10.2478/ebtj-2018-0043 |
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