Uncovering CASQ2-CPVT

Ambry Genetics and Audentes Therapeutics have partnered to offer genetic testing at no cost for individuals who may carry a gene mutation known to be associated with catecholaminergic polymorphic ventricular tachycardia (CPVT). This program was created to diagnosis and to help people make more informed decisions about their health.

Key benefits include:

  • Clarify diagnosis and risk for sudden cardiac arrest
  • Target medical management and prevention of cardiac arrest and other complications
  • Offer family members genetic testing (for a familial mutation) and implement medical surveillance to only those that need it
  • Reduce healthcare costs, resources used, and anxiety for families

Disease Information

CPVT is a rare genetic condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.

If CPVT is not recognized and treated, an episode of ventricular tachycardia may cause the heart to stop beating (cardiac arrest), leading to sudden death. Researchers suspect that CPVT may be a significant cause of sudden death in children and young adults without recognized heart abnormalities.

Signs and Symptoms

The warning signs for CPVT may include:1

  • Family history of unexpected, unexplained sudden death before age 40
  • Fainting or seizure during exercise, excitement, or startle
  • Consistent or unusual chest pain and/or shortness of breath during exercise

Reference: 1. SADS Foundation. http://www.sads.org. Accessed October 10, 2017.

Eligibility Criteria

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 (e.g., exhibit bigeminy, couplets, nonsustained ventricular tachycardia [VT], or sustained VT)
  4. Display an irregular heartbeat on a cardiac monitoring device (e.g., 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

Genetic Testing Process

  1. We will coordinate directly with your health care professinal to confirm eligibility and provide a genetic testing kit.
  2. To order a genetic test, a completed test requisition form (TRF) must be submitted for each patient by a health care professional. The TRF is available for download and delivery to your health care professional in the right sidebar menu.
  3. Results will be returned to your health care professional in approximately 2-3 weeks

Download a paper TRF

Click here

Order a Sample Kit

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