GTR Home > Tests > Test for ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections

Overview

Conditions for which test is offered: ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections

Testing Method

  • Molecular Genetics
    • Sequence analysis of the entire coding region
    • Mutation scanning of the entire coding region

Test CommentHelp

  • Mutation panel: NG_011541.1:g.55082G>A, NG_011541.1:g.56849G>A, NG_011541.1:g.56848C>T
  • The entire coding region is analysed in the second step of the analysis.

Contact Policy Help

Pre-test email/phone consultation regarding genetic test utilization and decision making is provided to patients/families.

Clinical resources

Practice guidelines

  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

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