MY APPROACH to genetic testing in cardiology practice

[...]currently the interpretation of genetic tests is subjected to the complexity of the molecular basis of LQTS, and, even more than before, a comprehensive clinical approach along with pre- and post-genetic counseling is necessary to assess each variant effect and weight in the patient phenotype,...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Trends in cardiovascular medicine 2016-01, Vol.26 (1), p.97-98
1. Verfasser: Vatta, Matteo, PhD, FACMG
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:[...]currently the interpretation of genetic tests is subjected to the complexity of the molecular basis of LQTS, and, even more than before, a comprehensive clinical approach along with pre- and post-genetic counseling is necessary to assess each variant effect and weight in the patient phenotype, as well as which variant(s) to be tested for in the proband's first-degree relatives to identify at-risk family members.
ISSN:1050-1738
1873-2615
DOI:10.1016/j.tcm.2015.05.018