GTR Home > Tests > ACTN2 Gene, entire coding region or targeted variant


Test order codeHelp: ACTN2

Test name


ACTN2 Gene, entire coding region or targeted variant (ACTN2)

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Mutation Confirmation



2 conditions tested. Click Indication tab for more information.


Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 gene and variant. Click Methodology tab for more information.


Clinical validity


Not provided

Clinical utility


Not provided

How to order


We accept specimen of peripheral (whole) blood and extracted DNA. For further specifications, contact us.
Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously

Practice guidelines

  • ESC, 2014
    2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
  • HRS/EHRA, 2012
  • ACC/ESC, 2003
    American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center