Genetic Testing For Heart Disease

Hereditary forms of heart disease, if not known about or left untreated, can be fatal. However, with early identification and intervention, some forms of hereditary heart disease can be managed and treated so they do not become life-threatening. Genetic testing for heart disease should be considered for any individual with a personal or family history of:

Personal or Family History of One of These Conditions

If you or your family are suspicious of having a hereditary form of heart disease, there are tell-tale signs you can look for, including:

Personal or Family History of Any of These Features

  • Blacking-out episodes or fainting (syncope) that are recurrent or seizures not responsive to medication
  • Heart palpitations or abnormal heart rhythm at a young age
  • Sudden cardiac death, unexplained death at a young age or death by drowning or accident
  • Heart failure less than age 50
  • Multiple relatives with the same type of cardiac disease
  • High levels of cholesterol (300+)

Genetic Testing For Heart Disease at Chicago Genetic Consultants

We perform cardiogenetic testing for conditions including:

  • Alström syndrom
  • Andersen-Tawil syndrome
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • Atrial fibrillation
  • Barth syndrome
  • Brugada syndrome (BrS)
  • Cantu syndrome
  • Carnitine palmitoyltransferase II (CPTII or CPT2) deficiency
  • Carvajal syndrome
  • Catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • Combined oxidative phosphorylation deficiency (COXPD)
  • Congenital disorder of glycosylation DOLK-CDG (CDG-Im)
  • Danon disease
  • Dilated cardiomyopathy (DCM)
  • Dystrophinopathy
  • Dystrophy-dystroglycanopathy types A4, B4, C4, A5, B5 and C5
  • Emery-Dreifuss muscular dystrophy (EDMD)
  • Fabry disease
  • Glycogen storage disease type II (GSDII), also known as Pompe disease
  • Glycogen storage disease, type III (GSD III)
  • Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis)
  • Hypertrophic cardiomyopathy (HCM)
  • Inherited cardiomyopathies
  • Jervell and Lange-Nielsen syndrome (JLNS)
  • Left ventricular noncompaction (LVNC)
  • Limb-girdle muscular dystrophy type 2F
  • Long QT syndrome (LQTS)
  • Naxos disease
  • Noonan-spectrum disorders
  • Restrictive cardiomyopathy (RCM)
  • Short QT syndrome (SQTS)
  • Timothy syndrome
  • Wolff-Parkinson-White syndrome (WPW)

Here’s How it Works:

  1. We’ll have an initial consultation via phone or video to determine if you’re a candidate for genetic testing.
  2. You’ll submit a blood or saliva sample using a test kit we’ll have mailed to you.
  3. We’ll have a follow up consultation via phone or video. We’ll walk through your results and make recommendations for you and your family members.

Overall the process takes 2 – 3 weeks.

Insurance and Payment

Most insurers cover genetic testing if certain conditions are met. We’ll review those with you at your initial consultation. If you’d prefer to self-pay, the laboratories accept credit cards, and the cost for the testing is as low as $250.

Additional Support

We also connect individuals and families with patient advocacy groups. It often helps to speak to other people who are dealing with many of the same difficult issues and decisions you may encounter.