Advancing the understanding of CPVT

Heart

Mutations in several genes are known to cause catecholaminergic polymorphic ventricular tachycardia
(CPVT)—including the CASQ2 gene. A genetic test may help determine whether CASQ2 is the cause of CPVT.

Genetic testing for CASQ2-CPVT

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Step 1 Submit form

Fill out the form below and get connected to Ambry, our genetic testing partner

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Step 2 Confirm eligibility

Ambry will coordinate with you or your healthcare provider to confirm the information provided

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Step 3 Complete test

The saliva collection kits are easy to use, and can be completed at home or your healthcare provider's office

This program is available to US and international candidates.

A CPVT genetic test is available at no cost to individuals who qualify.

By clicking submit, you agree to be contacted by Audentes Therapeutics, SADS and/or Ambry Genetics.

Eligibility criteria

The warning signs for CPVT may include:1

To be eligible for a genetic test at no cost, a candidate must meet at least 3 of the following criteria. Patient must:

  1. Have a family history of sudden cardiac death or CPVT
  2. Have a normal resting electrocardiogram (ECG) and structurally normal heart
  3. Register a positive stress test (eg, exhibit bigeminy, couplets, nonsustained ventricular tachycardia [VT], or sustained VT)
  4. Display an irregular heartbeat on a cardiac monitoring device (eg, polymorphic bidirectional VT)
  5. Experience 1 or more episodes of fainting or loss of consciousness (exertional syncope) brought on by physical or emotional stress (thought to be adrenergic in origin)
  6. Have been previously diagnosed with CPVT based on symptoms, without having received a confirmed genetic diagnosis
Reference:   1. SADS Foundation. http://www.sads.org. Accessed October 10, 2017.

CPVT test requisition form (TRF)

To order a genetic test, a completed TRF must be submitted for each patient by a healthcare professional.

About these services

Ambry Genetics is a healthcare company with the most comprehensive suite of genetic testing solutions for inherited and noninherited diseases. Its mission is to collect and analyze genomic information to help accelerate the understanding of human disease.

About RhythmNext: Inherited arrhythmias such as CPVT can often lead to sudden cardiac death. RhythmNext, a 36-gene panel, analyzes genes associated with these arrhythmias and can be an effective way of confirming a diagnosis. At-risk individuals in the family are identified, providing vital information for management and intervention options for both the patient and their family.

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Learn about CPVT and its causes

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Additional resources and support

For additional information on CASQ2-CPVT:

Genetics Home Reference Genetics Home Reference

Consumer-friendly information about human genetics from the U.S. National Library of Medicine

Orphanet Orphanet

A unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care, and treatment of patients with rare diseases

Mendelian Inheritance in Man Online Mendelian Inheritance in Man (OMIM)

A comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available online

For support for individuals and families living with CPVT:

The SADS Foundation The SADS Foundation

A foundation working to save the lives and support the families of young people with hereditary heart rhythm disorders

SADS UK SADS UK

A foundation working to save lives by providing information and funding research to prevent premature sudden cardiac death

Heart Rhythm Alliance Heart Rhythm Alliance

A global organization working to improve the diagnosis, treatment, and quality of life for all those affected by arrhythmias

Heart Rhythm Society Heart Rhythm Society

A specialty organization working to improve the care of patients by advancing research, education, and optimal health care policies and standards

British Heart Foundation British Heart Foundation

A charity fighting to end heart disease and the biggest independent funder of cardiovascular research in the United Kingdom

Parent Heart Watch Parent Heart Watch

A national organization working to protect youth from sudden cardiac arrest and sudden cardiac death