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Cardiolucent

Procedure

Genetic Cardiac Testing

DNA-level insight into inherited heart conditions

Genetic cardiac testing uses targeted DNA sequencing to look for inherited variants that cause or predispose to specific cardiovascular conditions — including hypertrophic and dilated cardiomyopathy, arrhythmogenic cardiomyopathy, long QT and Brugada syndromes, familial hypercholesterolemia, and thoracic aortic aneurysm syndromes. A positive result can transform clinical management, enable cascade screening of family members, and remove diagnostic uncertainty that imaging alone cannot resolve.

What's Included

  • Targeted gene-panel selection appropriate to your clinical picture
  • Saliva or blood sample collection
  • Sequencing performed at a certified clinical laboratory
  • Variant classification using ACMG criteria
  • Pre-test discussion of benefits, limitations, and implications
  • Detailed post-test counseling with Dr. Kedan
  • Cascade-screening recommendations for first-degree relatives

How It's Performed

Sample collection is performed in the Beverly Hills office — either a small saliva sample or a routine venous blood draw, depending on the lab and panel. The sample is sent to a clinical genetics laboratory (such as Invitae, GeneDx, or Ambry) and analyzed using next-generation sequencing. Results return in 3 to 6 weeks, and Dr. Kedan reviews and interprets the report with you in detail.

How to Prepare

  • For saliva tests: avoid eating, drinking, smoking, or chewing gum for 30 minutes before collection.
  • Bring a detailed family history — including sudden death, unexplained drowning, or seizures.
  • Bring records or genetic reports from any affected family members.
  • Take all routine medications normally.
  • Plan to discuss potential implications for life and disability insurance.

What to Expect After

There is no recovery — sample collection is the only physical step. When results return, Dr. Kedan walks you through the findings in plain language: whether a clear disease-causing variant was found, a variant of uncertain significance, or a negative result. The discussion includes implications for your own care, screening recommendations for first-degree relatives, and any lifestyle or activity guidance.

Indications

  • Diagnosed cardiomyopathy (hypertrophic, dilated, arrhythmogenic, restrictive)
  • Suspected channelopathy (long QT, Brugada, CPVT)
  • Unexplained cardiac arrest or sudden cardiac death survivors
  • Family history of sudden cardiac death, especially under age 50
  • Familial hypercholesterolemia or extreme dyslipidemia
  • Thoracic aortic aneurysm with family history or syndromic features
  • Cascade screening of an affected relative's known variant

Common Questions

Frequently Asked Questions

What is genetic cardiac testing?
It is targeted DNA sequencing of genes known to cause inherited cardiovascular conditions — cardiomyopathies, channelopathies, familial hypercholesterolemia, aortopathies, and selected vascular and congenital syndromes. The result can confirm a clinical diagnosis, identify at-risk family members, and guide treatment decisions.
How is the sample collected?
Either a small saliva sample or a routine venous blood draw, depending on the lab and panel. Collection takes a few minutes in the Beverly Hills office.
How long until I get results?
Typically 3 to 6 weeks from sample collection. Some panels return faster.
Is it painful?
Saliva collection is painless. A blood draw is no more uncomfortable than a routine phlebotomy.
How do I prepare?
For saliva tests, avoid eating, drinking, smoking, or chewing gum for 30 minutes beforehand. Bring a detailed family history and any records or prior genetic reports from affected relatives.
Are there any risks?
Physical risks are minimal — those of any saliva or blood collection. The more important considerations are psychological (learning about an inherited condition) and practical (potential implications for life and disability insurance under current US law).
What do the results show?
The report lists each gene tested and any variants identified, classified by clinical significance as pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, or benign. A negative result reduces but does not eliminate genetic risk.
What if a variant is found?
Dr. Kedan reviews the result in detail, integrates it with your clinical picture, and outlines next steps — which may include focused imaging, rhythm monitoring, lifestyle or activity guidance, specific therapy, and importantly cascade screening of first-degree relatives, who have a 50% chance of carrying the same variant.
Who interprets the results?
The clinical laboratory generates the report using ACMG variant-classification criteria. Dr. Kedan reviews and interprets the result personally and, when needed, coordinates with a cardiac genetic counselor.
How do I schedule one?
Call Cardiolucent at (310) 304-5555. Genetic testing is typically arranged after a clinical evaluation determines the right panel for your situation.

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Medical Disclaimer

The information on this site is for general educational purposes only and is not medical advice, diagnosis, or treatment. Reading this site does not create a doctor–patient relationship. Always consult a qualified healthcare professional for personal guidance. If this is an emergency, call 911. Mentions of medications, devices, or procedures are informational and not endorsements. Full medical disclaimer.

†Some listed indications involve investigational/off-label use. Learn more.