DNA

Genomic Medicine Guidance

This point-of-care tool delivers concise clinical information about gene mutations that cause heritable cardiovascular diseases. Please select the gene and variant information, then click “SEARCH” to proceed.

Click here to see examples of genetic reports from:
Invitae
Color
GeneDX

Scroll through the list or start typing your gene name.

Select one of the following pathogenic or likely pathogenic variants:

Please select responses for the following and click Search.

The patient who was tested was diagnosed with one of these conditions:

Was information on the benefits, limitations or implications of genetic testing made available to the patient before genetic testing (or as part of the informed consent process for genetic testing)?

Information on the benefits, risks, limitations, and clinical implications of genetic testing were made available to the patient by:

According to current ACMG Practice GuidelineLink to ACMG Practice Guideline , informed consent for genetic testing should be offered to all patients, and counseling should be provided to all patients before and after genetic test results are disclosed. Please consult with a genetic professional for more information.*Options for genetic counseling resources

The mutation [gene] [variant] is not known to cause the phenotype that you selected. Please consider alternative causes and/or consult with a genetic professional or specialist in this area before using this test result to make clinical decisions.

*Options for genetic counseling resources

Genetic tests are most meaningful if the genes that are tested match the clinical phenotype. Please review your patient’s clinical features and try again.

You indicated that your patient’s gene variant is not in the dropdown list. Please enter the variant information.